Novel <i>MTTP</i> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
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چکیده
منابع مشابه
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2020
ISSN: 1308-5727,1308-5735
DOI: 10.4274/jcrpe.galenos.2020.2020.0015