Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
نویسندگان
چکیده
منابع مشابه
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
Hyperekplexia is a rare, but potentially fatal, neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden, unexpected auditory or tactile stimuli. This disorder is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) alpha1 subunit (GLRA1) and the presynaptic glycine transporter GlyT2 (SLC6A5). In this study, syst...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2017
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2017.22