Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1342-1353

  Flynn, Elizabeth K ^a   Kamat, Aparna ^a   Lach, Francis P ^b   Donovan, Frank X ^a   Kimble, Danielle C ^a   Narisu, Narisu ^a   Sanborn, Erica ^b   Boulad, Farid ^c   Davies, Stella M ^d   Gillio, Alfred P ^e   Harris, Richard E ^d   Macmillan, Margaret L ^f   Wagner, John E ^f   Smogorzewska, Agata ^b   Auerbach, Arleen D ^b   Ostrander, Elaine A ^a   Chandrasekharappa, Settara C ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

^c MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^e Hackensack UMC   (United States)

^f UNIVERSITY OF MINNESOTA   (United States)

Author keywords

ArrayCGH; FANCA; FANCB; FANCC; FANCD2; Fanconi anemia

Indexed keywords

FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP C PROTEIN; FANCONI ANEMIA GROUP D2 PROTEIN; FANCONI ANEMIA PROTEIN;

ALU SEQUENCE; ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA SEQUENCE; FAMILY; FANCA GENE; FANCB GENE; FANCC GENE; FANCD2 GENE; FANCONI ANEMIA; GENE DELETION; GENETIC CONSERVATION; GENOTYPE; HAPLOTYPE; HAPLOTYPE MAP; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; SHORT INTERSPERSED REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME BREAKAGE; CLASSIFICATION; CONSERVED SEQUENCE; GENE LINKAGE DISEQUILIBRIUM; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; NUCLEOTIDE SEQUENCE; PHYLOGENY;

ALU ELEMENTS; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CLONING, MOLECULAR; COMPARATIVE GENOMIC HYBRIDIZATION; CONSERVED SEQUENCE; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84917733605     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22680     Document Type: Article

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