Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

Autosomal-recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous disorders associated with diverse neurological and nonneurological features that occur before the age of 20. Currently, mutations in more than 20 genes have been identified, but approximately half of the ARCA...

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Huvudupphovsmän: Doi, Hiroshi, Yoshida, Kunihiro, Yasuda, Takao, Fukuda, Mitsunori, Fukuda, Yoko, Morita, Hiroshi, Ikeda, Shu-ichi, Kato, Rumiko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Sakai, Haruya, Miyatake, Satoko, Shiina, Masaaki, Nukina, Nobuyuki, Koyano, Shigeru, Tsuji, Shoji, Kuroiwa, Yoshiyuki, Matsumoto, Naomichi
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2011
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155161/
https://ncbi.nlm.nih.gov/pubmed/21835308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.07.012
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