Severe congenital Factor VII deficiency associated with the 13q deletion syndrome

被引:18
作者
Hewson, MP
Carter, JM
机构
[1] Wellington Hosp, Dept Child Hlth, Wellington, New Zealand
[2] Wellington Sch Med, Dept Hematol, Wellington, New Zealand
关键词
coagulation factor VII; chromosome deletion; 13q deletion syndrome;
D O I
10.1002/ajh.10237
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The first reported case of clinically significant congenital Factor VII deficiency in association with the 13q deletion syndrome is presented. It illustrates the importance of knowledge of the specific genes involved in gross deletion syndromes and adds to the current clinical experience of this rare disease. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码:232 / 233
页数:2
相关论文
共 4 条
[1]  
Cooper DN, 1997, THROMB HAEMOSTASIS, V78, P151
[2]  
GILGENKRANTZ S, 1986, ANN GENET-PARIS, V29, P32
[3]   The Human Gene Mutation Database [J].
Krawczak, M ;
Cooper, DN .
TRENDS IN GENETICS, 1997, 13 (03) :121-122
[4]   DEFICIENCY OF COAGULATION FACTOR-VII AND FACTOR-X ASSOCIATED WITH DELETION OF A CHROMOSOME 13 (Q34) - EVIDENCE FROM 2 CASES WITH 46,XY,T(13-Y)(Q11-Q34) [J].
PFEIFFER, RA ;
OTT, R ;
GILGENKRANTZ, S ;
ALEXANDRE, P .
HUMAN GENETICS, 1982, 62 (04) :358-360