A Novel Mutation in the Aprataxin (APTX) Gene in an Iranian Individual Suffering Early-Onset Ataxia with Oculomotor Apraxia Type 1(AOA1) Disease

BACKGROUND: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. METHODS: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was describ...

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Detalhes bibliográficos
Main Authors: Nouri, Nayereh, Nouri, Narges, Aryani, Omid, Kamalidehghan, Behnam, Sedghi, Maryam, Houshmand, Massoud
Formato: Artigo
Idioma:Inglês
Publicado em: Pasteur Institute of Iran 2012
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3600965/
https://ncbi.nlm.nih.gov/pubmed/23183622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6091/ibj.1077.2012
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