Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency

American Journal of Medical Genetics

Volumn 129 A, Issue 1, 2004, Pages 13-15

  Cutler, Jacqueline A ^a   Mitchell, Michael J ^a   Smith, Mark P ^a   Savidge, Geoffrey F ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Carrier identification; Hemophilia B; Mosaicism

Indexed keywords

BLOOD CLOTTING FACTOR 9;

ARTICLE; CASE REPORT; DISEASE SEVERITY; GERM LINE; HEMOPHILIA B; HETEROZYGOTE DETECTION; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; X CHROMOSOME;

EID: 3342929445     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30162     Document Type: Article

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