Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Shakya, Sunil; Kumari, Renu; Suroliya, Varun; Tyagi, Nishu; Joshi, Aditi; Garg, Ajay; Singh, Inder; Kalikavil Puthanveedu, Divya; Cherian, Ajith; Mukerji, Mitali; Srivastava, Achal K; Faruq, Mohammed

Shakya, Sunil; Kumari, Renu; Suroliya, Varun; Tyagi, Nishu; Joshi, Aditi; Garg, Ajay; Singh, Inder; Kalikavil Puthanveedu, Divya; Cherian, Ajith; Mukerji, Mitali; Srivastava, Achal K; Faruq, Mohammed.

Afiliação

Shakya S; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Kumari R; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
Suroliya V; CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Academy of Scientific and Innovative Research(AcSIR), New Delhi, India.
Tyagi N; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Joshi A; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
Garg A; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
Singh I; Neuroradiology Department, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Kalikavil Puthanveedu D; Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.
Cherian A; Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Trivandrum, India.
Mukerji M; Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Trivandrum, India.
Srivastava AK; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.
Faruq M; CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Academy of Scientific and Innovative Research(AcSIR), New Delhi, India.

Clin Genet ; 96(6): 566-574, 2019 12.

Article em En | MEDLINE | ID: mdl-31429931

Assuntos

Sequenciamento do Exoma; Genes Recessivos; Variação Genética; Degenerações Espinocerebelares/genética; Adulto; Sequência de Bases; Família; Loci Gênicos; Predisposição Genética para Doença; Humanos; Mutação/genética

Palavras-chave

India; ataxia genetics; autosomal recessive cerebellar ataxia; targeted sequencing; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Degenerações Espinocerebelares / Sequenciamento do Exoma / Genes Recessivos Limite: Adult / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Índia

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