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

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

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7 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)5528 - 5534
Number of pages7
JournalInternational Journal of Clinical and Experimental Pathology
Issue number5
Publication statusPublished - 2015

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