Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical Phenotype and Molecular Pathogenesis of a Hereditary Hemochromatosis Family with Double-Site Mutations in SLC40A1].

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

Hou Chuan-Dong, Geng Jie, Zhang Ya-Jing, Zhao Peng, He Tian-Tian, Zhang Hui, Li Hong-Yi, Zhang Hao-Jun, Zhang Li-Zhong, Gao Chu-Meng, Lu Xue-Chun

Abstract excerpt

OBJECTIVE: To investigate the clinical phenotype and molecular pathogenesis of a hereditary hemochromatosis family with double-site mutations in SLC40A1 . METHODS: High-throughput exome sequencing was performed to screen for gene mutations, and Sanger sequencing was used to validate the suspected mutations in SLC40A1 . The pathogenicity of the variants was predicted using bioinformatics tools including PROVEAN,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cation Transport Proteins
Share to Ferroportin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemochromatosis

Share to Mutation

Share to Mutation, Missense

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 42544680
DOI: 10.19746/j.cnki.issn1009-2137.2026.03.035

Genes

SLC40A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical Phenotype and Molecular Pathogenesis of a Hereditary Hemochromatosis Family with Double-Site Mutations in SLC40A1].PMID 42544680Read ↗

Novel human pathological mutations. Gene symbol: SLC40A1. Disease: haemochromatosis, type 4.Semantic proximity Read ↗

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)Semantic proximity Read ↗

SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review.Semantic proximity Read ↗

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patientsSemantic proximity Read ↗

SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.Semantic proximity Read ↗

A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in ChinaSemantic proximity Read ↗

[Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].Semantic proximity Read ↗

Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.Semantic proximity Read ↗

Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.Semantic proximity Read ↗

Molecular Diagnostic and Pathogenesis of Hereditary HemochromatosisSemantic proximity Read ↗

Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.Semantic proximity Read ↗

SLC40A1 in iron metabolism, ferroptosis, and disease: A reviewSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.