نتایج جستجو برای: autosomal recessive
تعداد نتایج: 41260 فیلتر نتایج به سال:
We screened 526 unrelated patients with autosomal dominant, autosomal recessive, or simplex retinitis pigmentosa for evidence of mutations of the genes encoding S-antigen (S-Ag), interstitial retinol binding protein (IRBP), and the alpha-subunit of cone-specific transducin. Restriction fragment length polymorphisms (RFLPs) were identified at each of these loci. Within each set of patients with ...
PURPOSE Some 30% of cases of congenital cataract are genetic in origin, usually transmitted as an autosomal dominant trait. The molecular defects underlying some of these autosomal dominant cases have been identified and were demonstrated to be mostly mutations in crystallin genes. The autosomal recessive form of the disease is less frequent. To date, only four genes and three loci have been as...
We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extrem...
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...
short rib polydactyly syndrome (srps) is a very rare congenital anomaly that is classified into four subtypes. it is an autosomal recessive inherited disease. we report a case of this syndrome without a previous family history of congenital defects.
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