Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese patients

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Oct 14, 2007 (publication date) through Oct 3, 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. Oct 14, 2007; 13(38): 5147-5150
Published online Oct 14, 2007. doi: 10.3748/wjg.v13.i38.5147

Table 1 Mutations identified in WD chromosomes

Mutation	Nucleotide change	Exon	Predicted effect	Frequency of WD alleles (%)	Frequency of WD alleles in Caucasian patients (%)
Asp96Gly	287A>G	2	Disrupts Cu 1	8	novel
Asp196Glu	588C>A	2	Disrupts Cu 2	2	novel
Arg778Leu¹	2333G>T	8	Disrupts TM4	50	2
Pro992Leu²	2975C>T	13	Disrupts Ch/TM6	27	2
Val1216Met³	3646G>A	17	Disrupts ATP binding	3	< 1

¹Mutation previously described[5].

²Mutation previously described[1].

³Mutation previously described[1].

Citation: Ye S, Gong L, Shui QX, Zhou LF. Wilson disease: Identification of two novel mutations and clinical correlation in Eastern Chinese patients. World J Gastroenterol 2007; 13(38): 5147-5150
URL: https://www.wjgnet.com/1007-9327/full/v13/i38/5147.htm
DOI: https://dx.doi.org/10.3748/wjg.v13.i38.5147