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Article

Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients.

International journal of clinical and experimental pathology - 1 Jan 2015

Zhang Zhen, Jiang Qian, Li Qi, Cheng Wei, Qiao Guoliang, Xiao Ping, Gan Liang, Su Lin, Miao Chunyue, Li Long

Abstract excerpt

BACKGROUND: Genetic mosaicism has been reported for both coding and non-coding sequences in the RET gene in Hirschsprung disease (HSCR) patients. This study aimed to investigate somatic mutation rate in Chinese population by comparing both homozygous genotype percentage and risk allele frequency of 3 RET single nucleotide polymorphisms (SNPs) among blood and colon samples. METHODS: DNA was extracted from 59 HSCR...

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Identifiers

PMID: 26191260
PMCID: PMC4503131

Genes

RET

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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