نتایج جستجو برای: dominant mutation

تعداد نتایج: 404478  

Journal: :Investigative Opthalmology & Visual Science 2014

Journal: :The American Journal of Human Genetics 1998

Journal: :Investigative Opthalmology & Visual Science 2017

Journal: :Arteriosclerosis, Thrombosis, and Vascular Biology 2015

Journal: :Investigative ophthalmology & visual science 2004
Sei Ito Makoto Nakamura Yoshihisa Nuno Yoshitaka Ohnishi Teruo Nishida Yozo Miyake

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...

شجری, احمد, فلاح, راضیه,

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...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید