نتایج جستجو برای: dominant mutation
تعداد نتایج: 404478 فیلتر نتایج به سال:
PURPOSE All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838. A novel heterozygous complex missense mutation of I915T and G917R in the GUCY2D gene was found in a Japanese family with autosomal dominant CORD. The clinical features associated with this mutation were describ...
Background and Objectives: HDR (hypoparathyroidism, deafness and renal dysplasia) is an autosomal dominant syndrome due to mutation in the glutamyl aminotransferase. We report a deaf child with hypoparathyroidism. Case Report The patient was a 6.5 year-old boy whose hearing impairment had been detected in infancy and cochlear implant had been done at 3.5 years of age. He had no problem until on...
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