Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome

Thrombosis and Haemostasis

Volumn 101, Issue 4, 2009, Pages 775-778

  Wang, Xuefeng ^a   Lu, Yeling ^a   Ding, Qiulan ^a   Dai, Jing ^a   Xi, Xiaodong ^a   Wang, Hongli ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; FIBRINOGEN;

ADULT; BLEEDING TENDENCY; BLOOD ANALYSIS; CHILD; CHROMOSOME INVERSION; CLINICAL FEATURE; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY HISTORY; FEMALE; FIBRINOGEN BLOOD LEVEL; GENETIC ANALYSIS; HEMOPHILIA A; HETEROZYGOSITY; HUMAN; LETTER; LINKAGE ANALYSIS; PARTIAL THROMBOPLASTIN TIME; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN TIME; THROMBIN TIME; THROMBOCYTE POOR PLASMA; UNIPARENTAL DISOMY; X CHROMOSOME INACTIVATION;

BLOOD COAGULATION; BLOOD COAGULATION TESTS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEMARTHROSIS; HEMOPHILIA A; HUMANS; INVERSION, CHROMOSOME; MUTATION; PEDIGREE; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 64849095971     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH08-12-0793     Document Type: Letter

References (13)

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