Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis

被引：11

作者：

Giansily-Blaizot, M

Aguilar-Martinez, P ^{[1
]}

Mazurier, C

Cneude, F

Goudemand, J

Schved, JF

de Martinville, B

机构：

[1] Univ Hosp, Haematol Lab, Montpellier, France

[2] CHRU, Med Genet Lab, Lille, France

[3] Fac Med Lille, F-59045 Lille, France

[4] Univ Hosp, Dept Haematol, Lille, France

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2001年 / 112卷 / 01期

关键词：

factor VII deficiency; prenatal diagnosis; genotyping;

D O I：

10.1046/j.1365-2141.2001.02497-4.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：251 / 252

页数：2

共 6 条

[1]

Cooper DN, 1997, THROMB HAEMOSTASIS, V78, P151

[2]

Giansily M, 1999, BLOOD, V94, p228A

[3]

MARCHETTI G, 1992, HUM GENET, V89, P497

[4] Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency [J].

McVey, JH ;

Boswell, EJ ;

Takamiya, O ;

Tamagnini, G ;

Valente, V ;

Fidalgo, T ;

Layton, M ;

Tuddenham, EGD .

BLOOD, 1998, 92 (03) :920-926

[5] PRENATAL EXCLUSION OF SEVERE FACTOR-VII DEFICIENCY BY DNA SEQUENCING [J].

MILLAR, DS ;

COOPER, DN ;

KAKKAR, VV ;

SCHWARTZ, M ;

SCHEIBEL, E .

LANCET, 1992, 339 (8805) :1359-1359

[6]

Peyvandi F, 1998, BLOOD, V92, p711A

← 1 →