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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Nouri, Nayereh, Nouri, Narges, Aryani, Omid, Kamalidehghan, Behnam, Sedghi, Maryam, Houshmand, Massoud
Format: Artigo
Idioma:Inglês
Publicat: Pasteur Institute of Iran 2012
Matèries:
Short Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars