Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 59-65

  Evdokimova, Viktoria N ^a   McLoughlin, Reagan K ^a   Wenger, Sharon L ^b   Grant, Stephen G ^a  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b WEST VIRGINIA UNIVERSITY   (United States)

Author keywords

Clinical diagnosis; FA; Fanconi anemia; Fanconi anemia heterozygotes; GPA; Somatic mutations

Indexed keywords

GLYCOPHORIN A;

ALLELE; ARTICLE; BLOOD TRANSFUSION; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; DNA REPAIR; ERYTHROBLAST; FANCONI ANEMIA; FEMALE; GENE; GENE LOSS; GENOTYPE; GPA GENE; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HOMOZYGOTE; HOSPITAL PATIENT; HUMAN; LABORATORY TEST; MALE; MUTATION RATE; PANCYTOPENIA; PRIORITY JOURNAL; QUALITATIVE DIAGNOSIS; QUANTITATIVE DIAGNOSIS; SOMATIC MUTATION;

ALLELES; CHILD; FAMILY HEALTH; FANCONI ANEMIA; FEMALE; GENE FREQUENCY; GENOTYPE; GLYCOPHORIN; HOMOZYGOTE; HUMANS; MALE; MUTATION;

EID: 18244371436     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30687     Document Type: Article

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