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[Combined deficiency of factors V and VIII caused by a novel compound heterozygous mutation of gene Lman1].

Zhongguo shi yan xue ye xue za zhi - 1 Feb 2010

Ge Jing, Xue Feng, Gu Dong-Sheng, DU Wei-Ting, Zhao Hai-Feng, Sui Tao, Li Hui-Yuan, Ma Li, Zhang Lei, Yang Ren-Chi

Abstract excerpt

Combined deficiency of factor V and VIII (F5F8D) is a rare, autosomal recessive disorder caused by mutations of either lman1 or mcfd2. To identify mutations of these two genes in a Chinese F5F8D family, the samples of peripheral blood were collected from the proband and her parents. Coagulation tests were carried out, including activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time...

Topics

Child
Exons
Factor V
Factor V Deficiency
Factor VIII
Female
Hemophilia A
Heterozygote
Humans
Mannose-Binding Lectins
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Source

Identifiers

PMID: 20137144

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