Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.

Faruq, M; Narang, A; Kumari, R; Pandey, R; Garg, A; Behari, M; Dash, D; Srivastava, A K; Mukerji, M

Faruq, M; Narang, A; Kumari, R; Pandey, R; Garg, A; Behari, M; Dash, D; Srivastava, A K; Mukerji, M.

Affiliation

Faruq M; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology, Delhi, India; Neurology Department, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.

Clin Genet ; 86(4): 335-41, 2014 Oct.

Article in En | MEDLINE | ID: mdl-24102492

Subject(s)

Cerebellar Ataxia/genetics; Hearing Loss/genetics; High-Throughput Nucleotide Sequencing; Mutation, Missense/genetics; Age of Onset; Cerebellar Ataxia/classification; Cerebellar Ataxia/etiology; Cerebellar Ataxia/pathology; DNA Helicases/genetics; Exome/genetics; Genetic Linkage; Hearing Loss/complications; Hearing Loss/pathology; Humans; India; Mitochondrial Proteins/genetics; Pedigree; Phenotype; Spinocerebellar Degenerations/genetics; Spinocerebellar Degenerations/pathology

Key words

ataxia; exome sequencing; novel mutation; recessive and neurodegenerative disorder

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Mutation, Missense / High-Throughput Nucleotide Sequencing / Hearing Loss Type of study: Etiology_studies / Risk_factors_studies / Screening_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: Clin Genet Year: 2014 Type: Article Affiliation country: India

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