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Genes For Spinocerebellar Ataxia With Blindness And Deafness (Scabd/Scar3, Mim# 271250 And Scabd2)
(Nature Publishing Group, 2016)
Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21-p23 ...
Variants In The Oxidoreductase Pyroxd1 Cause Early-Onset Myopathy With Internalized Nuclei And Myofibrillar Disorganization
(Cell Press, 2016)
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing ...
Novel Mutations In Genes Causing Hereditary Spastic Paraplegia And Charcot-Marie-Tooth Neuropathy Identified By An Optimized Protocol For Homozygosity Mapping Based On Whole-Exome Sequencing
(Nature Publishing Group, 2016)
Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation ...