Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

Human Mutation

Volumn 28, Issue 12, 2007, Pages 1198-1206

  Sheen, Campbell R ^a   Jewell, Ursula R ^b   Morris, Christine M ^a,b   Brennan, Stephen O ^a   Férec, Claude ^c,d   George, Peter M ^a   Smith, Mark P ^e   Chen, Jian Min ^c,d  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c INSERM   (France)

^d ETABLISSEMENT FRANÇAIS DU SANG   (France)

^e CANTERBURY DISTRICT HEALTH BOARD   (New Zealand)

Author keywords

Break induced replication; Complex genomic rearrangement; F8; Factor VIII; FUNDC2; Hemophilia A; Serial replication slippage

Indexed keywords

BLOOD CLOTTING FACTOR 8; DOUBLE STRANDED DNA;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CHROMOSOME REPLICATION; CHROMOSOME XQ; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DISEASE SEVERITY; DNA REPAIR; DNA SEQUENCE; DNA STRAND BREAKAGE; FUNDC2 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MAPPING; GENE MUTATION; HEMOPHILIA A; HSFX1 GENE; HUMAN; MAGEA11 GENE; MAGEA9 GENE; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TMEM185A GENE;

ADOLESCENT; ANTIGENS, NEOPLASM; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FACTOR VIII; GENE DUPLICATION; HEAT-SHOCK PROTEINS; HEMOPHILIA A; HUMANS; MALE; MODELS, GENETIC; MUTAGENESIS, INSERTIONAL; MUTATION; NEOPLASM PROTEINS; NERVE TISSUE PROTEINS; RECEPTORS, G-PROTEIN-COUPLED; SEQUENCE DELETION;

EID: 37049008925     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20591     Document Type: Article

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