ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function

American Journal of Human Genetics

Volumn 94, Issue 2, 2014, Pages 246-256

  Tummala, Hemanth ^a   Kirwan, Michael ^a   Walne, Amanda J ^a   Hossain, Upal ^a,e   Jackson, Nicholas ^b   Pondarre, Corinne ^c   Plagnol, Vincent ^d   Vulliamy, Tom ^a   Dokal, Inderjeet ^a,e  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY HOSPITAL COVENTRY   (United Kingdom)

^c UNIVERSITÉ LYON 1   (France)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e BARTS HEALTH NHS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; CELL LINE, TUMOR; CELL NUCLEUS; CELL SURVIVAL; DNA DAMAGE; DNA HELICASES; DNA REPAIR; FEMALE; GENE KNOCKDOWN TECHNIQUES; HEK293 CELLS; HELA CELLS; HEMOGLOBINURIA, PAROXYSMAL; HISTONES; HUMANS; MALE; MITOCHONDRIA; MITOMYCIN; MUTATION; PEDIGREE; PHOSPHORYLATION; REACTIVE OXYGEN SPECIES; SESQUITERPENES;

EID: 84893716688     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.01.007     Document Type: Article

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