Article
[Relationship between genotypes and clinical phenotypes in patients from 7 hemophilia A families].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Sept 2015
Liang Wei-Ling, Wei Hong-Ying, Liao Ning, Zhou Jun-Li
Abstract excerpt
OBJECTIVE: To study the mutation types of factor VIII (FVIII) gene in patients from 7 hemophilia A (HA) families and the relationship between FVIII gene mutations and clinical phenotypes. METHODS: A total of 8 patients from 7 HA families were recruited. The activated partial thromboplastin time (APTT) and factor VIII coagulant activity (VIII:C) in these patients were measured. Polymerase chain reaction (PCR) was...
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