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Article

Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population.

Molecular medicine reports - 1 Oct 2017

Cao Ying, Shen Luxi, Huang Rong, Yang Lingcong, Du Zhuanyun, Ma Hua, Zheng Tianjin, Gu Haihua, Li Hongzhi

Abstract excerpt

Hemophilia A (HA) is an X‑linked recessive hereditary disorder caused by defects in the coagulation factor VIII (FVIII) gene. In order to diagnose patients with presymptomatic HA and carriers, the present study conducted direct gene diagnosis for the common abnormalities in FVIII and subsequently performed indirect gene diagnosis for the other abnormalities in FVIII for Chinese HA pedigrees. Direct gene diagnosis...

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Identifiers

PMID: 28849064
DOI: 10.3892/mmr.2017.7263

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Source receipt: pubmed, retrieved 7 Sept 2026.

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