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[A case of inherited afibrinogenemia caused by an IVS7-12A>G splice mutation of FGG gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2020

Wang Xiaoou, Yang Xiao, Wang Jinle, Shu Kuangyi, Li Fanfan, Yang Wei, Ruan Jichen, Wang Shishi, Jiang Minghua

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with inherited afibrinogenemia. METHODS: For the proband and his family members, prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), Fibrin(ogen) degradation products (FDPs), D-dimer (D-D), plasminogen activity (PLG:A) and the TT mixed experiment with protamine sulfate were determined with a STAGO-R...

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PMID: 33306830
DOI: 10.3760/cma.j.cn511374-20191120-00595

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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