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De novo autosomal dominant mutation in SYNGAP1

✍ Scribed by Edwin H. Cook Jr


Book ID
112007885
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
64 KB
Volume
4
Category
Article
ISSN
1939-3792

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Fourteen novel OPA1 mutations in autosom
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The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixtynine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain c