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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
Témata:
Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky