Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.

Das Bhowmik, Aneek; Dalal, Ashwin; Matta, Divya; Kandadai, Rukmini M; Kanikannan, Meena A; Aggarwal, Shagun

Das Bhowmik, Aneek; Dalal, Ashwin; Matta, Divya; Kandadai, Rukmini M; Kanikannan, Meena A; Aggarwal, Shagun.

Afiliação

Das Bhowmik A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
Matta D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
Kandadai RM; Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India.
Kanikannan MA; Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India.
Aggarwal S; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India. Electronic address: shagun.genetics@gmail.com.

Neuromuscul Disord ; 26(11): 809-814, 2016 11.

Article em En | MEDLINE | ID: mdl-27521129

Assuntos

Sequenciamento do Exoma; Proteoglicanas de Heparan Sulfato/genética; Mutação; Osteocondrodisplasias/diagnóstico; Osteocondrodisplasias/genética; Diagnóstico Pré-Natal; Éxons; Proteoglicanas de Heparan Sulfato/metabolismo; Humanos; Lactente; Masculino; Osteocondrodisplasias/tratamento farmacológico; Osteocondrodisplasias/patologia; Sítios de Splice de RNA

Palavras-chave

Exome sequencing; HSPG2; Sanger sequencing; Schwartz-Jampel syndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Diagnóstico Pré-Natal / Proteoglicanas de Heparan Sulfato / Sequenciamento do Exoma / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Índia

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