MC1R gene variants involvement in human OCA phenotype
نویسندگان
چکیده
منابع مشابه
Comprehensive Computational Analysis of Protein Phenotype Changes Due to Plausible Deleterious Variants of Human SPTLC1 Gene
Genetic variations found in the coding and non-coding regions of a gene are known to influence the structure as well as the function of proteins. Serine palmitoyltransferase long chain subunit 1 a member of α-oxoamine synthase family is encoded by SPTLC1 gene which is a subunit of enzyme serine palmitoyltransferase (SPT). Mutations in SPTLC1 have been associated with hereditary sensory and auto...
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BACKGROUND A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even though complexion is variable, three ocular features, i.e., hypopigmentation of the fundus, hypoplasia of the macula, and nystagmus, are classical pathological findings in these patients. We screened 172 index patients with a clinic...
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ObJECTIvE: heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity. We describe a novel MC4R deletion in a girl with severe early onset obesity, tall stature, pale skin and red hair. CaSE REpORT: Clinical and hormonal parameters were evaluated in a girl born full-term by non-consanguineous parents. her body mass index (bmI) at presentat...
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ژورنال
عنوان ژورنال: Open Life Sciences
سال: 2016
ISSN: 2391-5412
DOI: 10.1515/biol-2016-0020