Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study

Human Mutation

Volumn 25, Issue 2, 2005, Pages 142-149

  Levran, Orna ^a   Diotti, Raffaella ^a   Pujara, Kanan ^a   Batish, Sat D ^a   Hanenberg, Helmut ^b   Auerbach, Arleen D ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

DHPLC; FANCA; Fanconi anemia; Mutation screening; SNP haplotype

Indexed keywords

ARTICLE; EXON; FANCA GENE; FANCONI ANEMIA; GENE; GENE DELETION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MUTATION RATE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; GENE FREQUENCY; GENETIC SCREENING; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; REGISTRIES; RNA SPLICING; SEQUENCE DELETION;

EID: 13444253745     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20125     Document Type: Article

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