Open AccessA novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
Author(s) -
Nayereh Nouri,
Omid Aryani,
Behnam Kamalıdehghan,
Maryam Sedghi,
Massoud Houshmand
Publication year - 2012
Publication title -
pubmed
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.519
H-Index - 31
eISSN - 2008-823X
DOI - 10.6091/ibj.1077.2012
Subject(s) - exon , genetics , gene , ataxia , biology , microbiology and biotechnology , neuroscience
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.
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