期刊
WORLD JOURNAL OF GASTROENTEROLOGY
卷 12, 期 14, 页码 2239-2242出版社
W J G PRESS
DOI: 10.3748/wjg.v12.i14.2239
关键词
Wilson disease; ATP7B; MURR1; COMMD1
AIM: To analyze our Wilson disease patient cohort (n = 106) for alterations in the gene coding for MURR1. METHODS: Patients with an established diagnosis of Wilson disease but normal ceruloplasmin blood levels were chosen for our study (n = 14). Patients with two known disease-causing mutations in the ArP7B gene were not included. The three exons of the human MURR1 gene were sequenced after amplification of the genomic DNA by polymerase chain reaction. RESULTS: Our study did not reveal any mutations leading to an amino acid change in the MURR1 sequence of Wilson disease patients. A polymorphism at 472 bp of the coding sequence could be confirmed. CONCLUSION: The MURR1 gene plays no role in the pathogenesis of Wilson disease patients with normal serum ceruloplasmin levels. (c) 2006 The WJG Press. All rights reserved.
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