Novel mutations in the GALK1 gene in patients with galactokinase deficiency Communicated by Haig Kazazian Online Citation: Human Mutation, Mutation in Brief #394 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/394.pdf
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A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
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متن کاملProfile of Iranian GJB2 Mutations in Young Population with Novel Mutation
Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2001
ISSN: 1059-7794,1098-1004
DOI: 10.1002/1098-1004(2001)17:1<77::aid-humu20>3.3.co;2-8