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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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[Clinical Study of A Family with Hereditary Hemochromatosis Type 4 Caused by Novel SLC40A1 c.G205A Mutation]

Wei Guan1, Zhi-Rui Yang1, Li-Ying Liu1

  • 1Senior Department of Hematology, The Fifth Medical Center of PLA General Hospital, Beijing 100071, China.

Zhongguo Shi Yan Xue Ye Xue Za Zhi
|June 2, 2026
PubMed

Insights

Hereditary hemochromatosis (HH) type 4 is caused by the SLC40A1 c.G205A mutation. This genetic defect leads to elevated ferritin and abnormal liver function, following an autosomal dominant inheritance pattern.

Area of Science:

  • Genetics
  • Internal Medicine
  • Molecular Biology
Abstract

Keywords:
hereditary hemochromatosis type 4;

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