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[Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor Ⅺ Deficiency].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition - 1 Mar 2020

Weng Miao-Shan, Lin Fen, Zhang Jin-Can, Wu Jiao-Ren, Yu Xue-Mei, Yang Li-Ye

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genotype in two pedigrees with hereditary coagulation factor Ⅺ (FⅪ) deficiency, and investigate the molecular mechanisms of FⅪ deficiency. METHODS: Two patients with hereditary coagulation FⅪ deficiency were admitted to Chaozhou Central Hospital in Nov 2014 and Jan 2018. The prothrombin time (PT), activated partial thromboplastin time (APTT), FⅪ activity (FⅪ∶C) and FⅪ...

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Child
Factor XI
Factor XI Deficiency
Genotype
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Sequence Analysis, DNA

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PMID: 32220196
DOI: 10.12182/20200360601

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