Severe coagulation factor V deficiency associated with an interstitial deletion of chromosome 1q

被引：11

作者：

Caudill, J. S.

Sood, R.

Zehnder, J. L.

Pruthi, R. K.

Steensma, D. P.

机构：

[1] Mayo Clin & Mayo Fdn, Div Pediat Hematol Oncol, Rochester, MN 55905 USA

[2] Stanford Univ, Dept Pathol, Stanford, CA 94305 USA

[3] Mayo Clin, Dept Hematol, Rochester, MN USA

来源：

JOURNAL OF THROMBOSIS AND HAEMOSTASIS | 2007年 / 5卷 / 03期

关键词：

D O I：

10.1111/j.1538-7836.2007.02363.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：626 / 628

页数：4

共 10 条

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[5] Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations [J].

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[6] A novel two base pair deletion in the factor V gene associated with severe factor V deficiency [J].

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[7] A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency [J].

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AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 104 (04) :282-286

[8] Homozygous factor V splice site mutation associated with severe factor V deficiency [J].

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[9] Structural investigation of the A domains of human blood coagulation factor V by molecular modeling [J].

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[10]

Zehnder JL, 1999, THROMB HAEMOSTASIS, V82, P1097

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