TROTTING AND PACING: DOMINANT AND RECESSIVE?
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: Science
سال: 1907
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.26.678.908