Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene
نویسندگان
چکیده
منابع مشابه
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
BACKGROUND Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce. METHODS A cohort of 27 Chinese patients diagnosed with acid sphingomyelinase deficiency, within the past five years, were collected and investigated for genotype, phenotype, and their correlations. RESULTS The majority of ...
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15 صفحه اولCharacterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease
Niemann-Pick C disease (NPC) is an autosomal recessive lysosomal storage disorder characterized by accumulation of unesterified cholesterol and other lipids within the lysosomes due to mutation in NPC1 or NPC2 genes. A feline model of NPC carrying a mutation in NPC1 gene has been previously described. We have identified two kittens affected by NPC disease due to a mutation in NPC2 gene. They ma...
متن کاملFamily 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: Medical Journal of The Islamic Republic of Iran
سال: 2019
ISSN: 1016-1430,2251-6840
DOI: 10.47176/mjiri.33.126