Mutation of RET gene in Chinese patients with Hirschsprung&rsquo;s disease

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Dec 15, 2002 (publication date) through Oct 29, 2025

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Dec 15, 2002; 8(6): 1108-1111
Published online Dec 15, 2002. doi: 10.3748/wjg.v8.i6.1108

Table 1 The mutation analysis of exon 13 of RET gene from four cases

case	he heterozygous of allele gene	Nucleotide change	Amino acid change	Mutation types
case2	Heterozygote	18888 T→G	Cys→Phe	missense mutation
case3	Heterozygote	18888 T→G	Cys→Phe	missense mutation
case4	Heterozygote	18888 T→G	Cys→Phe	missense mutation
case6	Homozygote	18926 ins G	--	frameshift mutation

Citation: Li JC, Ding SP, Song Y, Li MJ. Mutation of RET gene in Chinese patients with Hirschsprung’s disease. World J Gastroenterol 2002; 8(6): 1108-1111
URL: https://www.wjgnet.com/1007-9327/full/v8/i6/1108.htm
DOI: https://dx.doi.org/10.3748/wjg.v8.i6.1108