[Genetic diagnosis and bioinformatic analysis of a pedigree with inherited factor VII deficiency].

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作者信息

Guo Zhiping, Guo Jianli, Wu Ruihong, Zhang Yaofang, Qin Xiuyu, Liu Xiue, Yang Linhua

机构信息

Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2015 Feb;36(2):163-5. doi: 10.3760/cma.j.issn.0253-2727.2015.02.018.

DOI:10.3760/cma.j.issn.0253-2727.2015.02.018

PMID:25778897

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7342163/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b36/7342163/0deeba95736b/cjh-36-02-163-g001.jpg

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本文引用的文献

Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools.

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Factor VII Deficiency.

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

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Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

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Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients.

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Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).

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