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[Analysis of genetic variant in a Chinese pedigree with hereditary factor VIII deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2022

Xie Haixiao, Yang Lihong, Xia Huinan, Jin Yanhui, Li Xiaolong, Jiang Shuting, Xu Yaoyao, Wang Mingshan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient with factor VIII deficiency. METHODS: All exons of the F13A1 and F13B genes were amplified by PCR and sequenced directly. The sequencing was performed with a reverse primer if a variant was found. Conservation of variant site was analyzed by the ClustalX software. Four online bioinformatic software including Mutation Taster, PolyPhen-2, PROVEAN and SIFT were...

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PMID: 35810426
DOI: 10.3760/cma.j.cn511374-20210527-00448

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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