✦ LIBER ✦

Exome sequencing reveals a novelTTC19mutation in an autosomal recessive spinocerebellar ataxia patient

✍ Scribed by Morino, Hiroyuki; Miyamoto, Ryosuke; Ohnishi, Shizuo; Maruyama, Hirofumi; Kawakami, Hideshi

Book ID: 121571874
Publisher: BioMed Central
Year: 2014
Tongue: English
Weight: 258 KB
Volume: 14
Category: Article
ISSN: 1471-2377
DOI: 10.1186/1471-2377-14-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Exome Sequencing Reveals a Homozygous SY

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

✍ Hiroshi Doi; Kunihiro Yoshida; Takao Yasuda; Mitsunori Fukuda; Yoko Fukuda; Hiro 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 808 KB

Exome analysis reveals a Japanese family

Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

✍ Ichikawa, Yaeko; Ishiura, Hiroyuki; Mitsui, Jun; Takahashi, Yuji; Kobayashi, Shu 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 477 KB

Exome sequencing reveals a novel MRE11 m

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia

✍ Miyamoto, Ryosuke; Morino, Hiroyuki; Yoshizawa, Akio; Miyazaki, Yoshimichi; Maru 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 729 KB

Exome sequencing reveals a nonsense muta

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia

✍ Li, Dong; Weber, David R; Deardorff, Matthew A; Hakonarson, Hakon; Levine, Micha 📂 Article 📅 2014 🏛 Nature Publishing Group 🌐 English ⚖ 284 KB

Targeted Next-Generation Sequencing of a

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

✍ Sascha Vermeer; Alexander Hoischen; Rowdy P.P. Meijer; Christian Gilissen; Korne 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 530 KB

Exome sequencing reveals mutated SLC19A3

Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy

✍ Sietske H. G. Kevelam, Marianna Bugiani… 📂 Article 📅 2013 🏛 Bohn Stafleu van Loghum 🌐 Dutch ⚖ 57 KB