Variant of Factor IX Deficiency in Female with 45, X Turner’s Syndrome-Reference-Cited by-同舟云学术

Variant of Factor IX Deficiency in Female with 45, X Turner’s Syndrome

Published:1970-08-01 Issue:2 Volume:36 Page:169-179
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

BITHELL THOMAS C.¹²,PIZARRO ALEJANDRO¹³,MACDIARMID WILLIAM D.¹⁴

Affiliation:

1. Department of Medicine, University of Utah College of Medicine, Salt Lake City, Utah.

2. BITHELL, University of Utah College of Medicine, Salt Lake Citq, Utah; present address: Departments of Clinical Pathology and internal Medicine, University of Virginia, Charlattesville, Va.

3. University of Utah College of Medicine, Salt Lake City, Utah.

4. University of Utah College of Medicine, Salt Lake City, Utah, present address: St. Boniface General Hospital, St. Boniface, Manitoba, Canada.

Abstract

Abstract The case of an 11-year-old girl with a severe bleeding diathesis, a factor IX level of 4 per cent, and 45, X Turner’s syndrome is described. Family studies revealed severe factor IX deficiency in 4 male relatives and mild deficiencies in 4 heterozygous female carriers. The Bm or B+ variant of this disorder was demonstrated in all affected members of the kindred.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/36/2/169/575719/169.pdf

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner’s syndrome;International Journal of Laboratory Hematology;2011-06-27

2. Homozygous Expression of Haemophilia B in a Heterozygote;Acta Medica Scandinavica;2009-04-24

3. Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome;European Journal of Haematology;2009-04-24

4. Haemophilia B- in a girl;Clinical & Laboratory Haematology;2008-06-28

5. Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene;Journal of Thrombosis and Haemostasis;2004-03