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[Clinical Study of A Family with Hereditary Hemochromatosis Type 4 Caused by Novel SLC40A1 c.G205A Mutation].

Zhongguo shi yan xue ye xue za zhi - 1 Apr 2026

Guan Wei, Yang Zhi-Rui, Liu Li-Ying, Fang Hai-Yan, Zhu Hai-Yan

Abstract excerpt

OBJECTIVE: To study the genetic characteristics and clinical manifestations of a family with hereditary hemochromatosis (HH) type 4 caused by SLC40A1 c.G205A mutation. METHODS: Clinical investigation and genetic testing were carried out on one hemochromatosis patient and her family members (7 individuals in total) at the PLA General Hospital. Sanger sequencing was used to validate the mutation site and a pedigree...

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Identifiers

PMID: 42227457
DOI: 10.19746/j.cnki.issn1009-2137.2026.02.038

Genes

SLC40A1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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