Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease
نویسندگان
چکیده
منابع مشابه
Novel mutations in ATP7B gene of Wilson\'s disease in Iranian patients
Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...
متن کاملGenotype-Phenotype Correlation among patients with Dystrophinopathies
Objective: To correlate the site and size of dystrophin gene deletion with the clinical picture in patients with dystrophinopathies. Design: The dystrophin gene is one of the largest known genes. More than half of the dystrophinopathy cases are associated with intrageneic deletions. The importance of the study arises from the fact that dystrophin cDNA probes provide a direct method of genetic d...
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ژورنال
عنوان ژورنال: World Journal of Gastroenterology
سال: 2004
ISSN: 1007-9327
DOI: 10.3748/wjg.v10.i4.590