Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency.

Abstract:

:Inherited factor VIl (FVII) deficiency is a rare autosomal recessive coagulation disorder characterized by a wide genet-ic heterogeneity and a poor relationship between FVII activity (FVII:C) levels and severity of the hemorrhagic diathesis. Given both the rarity and the heterogeneity of this disorder,genotype-phenotype relationships are difficult to clarify. The analysis of three FVII-deficient patients enabled us to offer some explanations.

journal_name

Haematologica

journal_title

Haematologica

authors

Giansily-Blaizot M,Aguilar-Martinez P,Schved JF

keywords:

subject

Has Abstract

pub_date

2002-03-01 00:00:00

pages

328-9

issue

3

eissn

0390-6078

issn

1592-8721

journal_volume

87

pub_type

信件
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