Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Sheth, Jayesh; Mistri, Mehul; Bhavsar, Riddhi; Pancholi, Dhairya; Kamate, Mahesh; Gupta, Neerja; Kabra, Madhulika; Mehta, Sanjiv; Nampoothiri, Sheela; Thakker, Arpita; Jain, Vivek; Shah, Raju; Sheth, Frenny

Sheth, Jayesh; Mistri, Mehul; Bhavsar, Riddhi; Pancholi, Dhairya; Kamate, Mahesh; Gupta, Neerja; Kabra, Madhulika; Mehta, Sanjiv; Nampoothiri, Sheela; Thakker, Arpita; Jain, Vivek; Shah, Raju; Sheth, Frenny.

Afiliação

Sheth J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India. jshethad1@gmail.com.
Mistri M; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.
Bhavsar R; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.
Pancholi D; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.
Kamate M; Department of Pediatric Neurology, KLES Prabhakar Kore Hospital, Belgaum, Karnataka, 590010, India.
Gupta N; Division of Genetics (Pediatrics), All India Institute of Medical Sciences, New Delhi, 110029, India.
Kabra M; Division of Genetics (Pediatrics), All India Institute of Medical Sciences, New Delhi, 110029, India.
Mehta S; Usha-Deep Children Neurology and Epilepsy clinic, Ahmedabad, 380014, India.
Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Science and Research Centre, Kochi, Kerala, 682041, India.
Thakker A; Department of Neurology, Lokmanya Tilak Medical College, Sion Hospital, Mumbai, Maharashtra, 400022, India.
Jain V; Department of Neurology, Santokba Durlabhji Hospital, Jaipur, 302015, Rajasthan, India.
Shah R; Ankur Neonatal Nursery, Ahmedabad, 380009, Gujarat, India.
Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.

BMC Neurol ; 18(1): 203, 2018 Dec 12.

Article em En | MEDLINE | ID: mdl-30541466

Assuntos

Aminopeptidases/genética; Dipeptidil Peptidases e Tripeptidil Peptidases/genética; Proteínas de Membrana/genética; Lipofuscinoses Ceroides Neuronais/genética; Serina Proteases/genética; Tioléster Hidrolases/genética; Povo Asiático/genética; Pré-Escolar; Feminino; Testes Genéticos; Humanos; Índia; Lactente; Masculino; Mutação; Tripeptidil-Peptidase 1

Palavras-chave

Batten disease; Neuronal ceroid lipofuscinoses (NCL); PPT1; TPP1

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tioléster Hidrolases / Dipeptidil Peptidases e Tripeptidil Peptidases / Serina Proteases / Aminopeptidases / Proteínas de Membrana / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: BMC Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Índia

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