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.
|Pages (from-to)||5528 - 5534|
|Number of pages||7|
|Journal||International Journal of Clinical and Experimental Pathology|
|Publication status||Published - 2015|
Zhang, Z., Jiang, Q., Li, Q., Cheng, W., Qiao, G-L., Xiao, P., Gan, L., Su, L., Miao, C., & Li, L. (2015). Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients. International Journal of Clinical and Experimental Pathology, 8(5), 5528 - 5534.