SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

Nature Genetics

Volumn 43, Issue 2, 2011, Pages 138-141

  Stoepker, Chantal ^a   Hain, Karolina ^b   Schuster, Beatrice ^c   Hilhorst Hofstee, Yvonne ^d   Rooimans, Martin A ^a   Steltenpool, Jurgen ^a   Oostra, Anneke B ^a   Eirich, Katharina ^c   Korthof, Elisabeth T ^d   Nieuwint, Aggie W M ^a   Jaspers, Nicolaas G J ^e   Bettecken, Thomas ^f   Joenje, Hans ^a   Schindler, Detlev ^c   Rouse, John ^b   De Winter, Johan P ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN; CAMPTOTHECIN; COMPLEMENTARY DNA; FANCONI ANEMIA GROUP D2 PROTEIN; HISTONE H2AX; MITOMYCIN C; RAD51 PROTEIN;

CHROMOSOME BREAKAGE; FANCONI ANEMIA; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; IMMUNOPRECIPITATION; LYMPHOBLAST; MUTATOR GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLX4 GENE; TRANSLATION INITIATION;

ALLELES; CAMPTOTHECIN; CHILD; CROSS-LINKING REAGENTS; DNA REPAIR; DOSE-RESPONSE RELATIONSHIP, DRUG; FANCONI ANEMIA; HEAT-SHOCK PROTEINS; HSC70 HEAT-SHOCK PROTEINS; HUMANS; IMMUNOPRECIPITATION; MALE; MITOMYCIN; MUTATION; PHENOTYPE; RECOMBINASES;

EID: 79251632658     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.751     Document Type: Review

References (13)

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