Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner’s syndrome

Author:

WILLIAMS V. K.,SUPPIAH R.,COPPIN B.,NICHOLLS C. M.,SIMSEK A.,McGREGOR L. K.

Publisher

Wiley

Subject

Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine

Reference13 articles.

1. Spontaneous haemophilia in a genotypically normal female. A family study;Afifi;Acta Haematologica,1974

2. Variant of factor IX deficiency in female with 45, X Turner’s syndrome;Bithell;Blood,1970

3. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII;Cai;Journal of Thrombosis Haemostasis,2006

4. Inversion of Intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner’s Syndrome;Chuansumrit;Thrombosis and Haemostasis,1999

5. Female haemophilia homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles;David;Haemophilia,2003

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