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Article

Identification of a Novel Mutation in Patients with Type A Insulin Resistance Syndrome.

Human heredity - 1 Jan 2022

Zhao Liling, Dai Hongmei, Zhang Qin, Hu Wenmu, Jin Ping

Abstract excerpt

INTRODUCTION: Type A insulin resistance syndrome is a rare type of congenital insulin resistance often caused by heterozygous mutations in the insulin receptor gene (INSR). The aim of this study was to explore the clinical and genetic characteristics of three patients with type A insulin resistance syndrome from two Chinese families. METHODS: The peripheral blood samples were collected from each family member....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35661079
DOI: 10.1159/000525223

Genes

INSR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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