Odkritje novega gena za sindrom prezgodnjega staranja · Tiskovna konferenca 21 November 2017,...
Transcript of Odkritje novega gena za sindrom prezgodnjega staranja · Tiskovna konferenca 21 November 2017,...
Tiskovna konferenca21 November 2017, Ljubljana
Odkritje novega gena za sindrom prezgodnjega staranja
Klinični inštitut za medicinsko genetiko Univerzitetni klinični center v Ljubljani
Karin Writzl, Aleš Maver, Borut Peterlin in Irena Lesjak
@AlesMaver, [email protected]
Kako odkrijemo gen za bolezen?
?
Človek
Kaj je dedni zapis in kaj so geni?
Človek Celice
Človeško telo gradijo celice
KromosomiČlovek Celice
V celičnem jedru je genetski zapis
DNA (nukleinska kislina)
Človek Celice
Genetski zapis
Večina dednega zapisa je med posamezniki enaka, razlike v zapisu pa so vzrok za naravno raznolikost…
G
…, včasih pa je sprememba v dednem zapisu vzrok za bolezen
Genom človekaPribližno 3 miljarde “črk” zapisa
Le 15% genov od 20.000 v našem genomu je bilo povezanih z genetskimi boleznimi
15% genov z znanimi povezavami z genetskimi boleznimi
85%genov brez znane povezave z genetskimi bolenzimi
Chong et al. 2015, AJHG
Branje genoma v preteklosti
Branje genoma v preteklosti
Branje genoma v preteklosti
Branje genoma v preteklosti
Branje genoma v preteklosti
Branje genoma v preteklosti
Projekt človeški genom (2004)
Za določitev zaporedja genoma prvih posameznikov je na prelomu tisočletja moralo sodelovati 20 inštitucij, preko 2000 znanstvenikov, s sredstvi preko 10 miljard dolarjev
?
Ali lahko enako ponovimo tudi za naše paciente brez ugotovljenega vzroka oziroma brez diagnoze?
Video na voljo: youtube.com/user/IlluminaInc
Sekvenciranje nove generacije
https://www.youtube.com/watch?v=pfZp5Vgsbw0
Zdrava mati Zdrav oče
Naš bolnik
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
Sekvenciranje zaporedja vseh genov v genomu
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
Zdrava mati Zdrav oče
Naš bolnik
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
Primerjava zaporedja genov
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
Zdrava mati Zdrav oče
Naš bolnik
26
Mednarodno povezovanje pri odkrivanju novega gena
Francoski bolnik Naš bolnik
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
Slovenska družina Francoska družina
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
Slovenska družina Francoska družina
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
29
Bolnik
Mama
Oče
SLC25A24p.Arg217His
SLC25A24p.Arg217His
Slovenskadružina
Francoska družina
30
Mednarodno povezovanje pri odkrivanju novega gena
Francoski bolnik Naš bolnik
Španski bolnik
31
Mednarodno povezovanje pri odkrivanju novega gena
Francoski bolnik Naš bolnik
Španski bolnik
32
Mednarodno povezovanje pri odkrivanju novega gena
Francoski bolnik Naš bolnik
Španski bolnikItalijanski bolnik
33
All patients sharedde novo variants affecting Arg217
residue in SLC25A24 protein
G A
wt/wt wt/wt
PArg217His/wt
wt/wt wt/wt
P
wt/wt
P
wt/wt
Arg217Cys/wt
wt/wt wt/wt
PArg217His/wt
Arg217His/wt
French familySlovenian family
Spanish family* Italian family
G A C G G G A C G G
G A Y G G
G A C G G G A C G GG A
C/T
G A Y G GC/T
* results from single base extension assay
denotes sample availability for testingP denotes familial proband
G A
G A Y G GC/T
G A C G GG A C G G
Writzl et al, AJHG
Dr. Lidija Kovačič
Model strukture beljakovine SLC25A24
Dr. Lidija Kovačič
Model strukture beljakovine SLC25A24
Dr. Lidija Kovačič
Model strukture beljakovine SLC25A24
Količina in lokacija beljakovine SLC25A24
Dr. Jorgina Satrustegui
Vpliv mutacije gena SLC25A24 na obliko mitohondrijev
Dr. Jorgina Satrustegui
Vpliv mutacije gena SLC25A24 na delitev celic
Dr. Jorgina Satrustegui