AB129. Prevalence of ATP7B mutation hotspots in Thai population

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Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran

Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...

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ژورنال

عنوان ژورنال: Annals of Translational Medicine

سال: 2017

ISSN: 2305-5839,2305-5847

DOI: 10.21037/atm.2017.s129