Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families

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Dec 15, 2001 (publication date) through Nov 19, 2024

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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, 2001; 7(6): 805-810
Published online Dec 15, 2001. doi: 10.3748/wjg.v7.i6.805

Table 2 Pathological germ-line mutations in the hMLH1 and hMSH 2 genes

Family	Gene	Exon	Codon	Mutation	Nucleotide Change
H2	hMSH2	13	680	Nonsense	CGA-TGA (stop codon)
H9	hMLH1	11	305	In-frame deletion	24 bp deletion
H27	hMSH2	3	206	Frame shift	1 bp (A) insertion; stop at 73 bp downstream of the mutation

Citation: Cai Q, Sun MH, Lu HF, Zhang TM, Mo SJ, Xu Y, Cai SJ, Zhu XZ, Shi DR. Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. World J Gastroenterol 2001; 7(6): 805-810
URL: https://www.wjgnet.com/1007-9327/full/v7/i6/805.htm
DOI: https://dx.doi.org/10.3748/wjg.v7.i6.805