Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Pandita, Shewata; Ramachandran, Vijaya; Balakrishnan, Prahlad; Rolfs, Arndt; Brandau, Oliver; Eichler, Sabrina; Bhalla, Anil Kumar; Khullar, Dinesh; Amitabh, Vindu; Ramanarayanan, Sivaramakrishnan; Kher, Vijay; Verma, Jyotsna; Kohli, Sudha; Saxena, Renu; Verma, Ishwar Chander

Pandita, Shewata; Ramachandran, Vijaya; Balakrishnan, Prahlad; Rolfs, Arndt; Brandau, Oliver; Eichler, Sabrina; Bhalla, Anil Kumar; Khullar, Dinesh; Amitabh, Vindu; Ramanarayanan, Sivaramakrishnan; Kher, Vijay; Verma, Jyotsna; Kohli, Sudha; Saxena, Renu; Verma, Ishwar Chander.

Afiliação

Pandita S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. pandita.shwet07@gmail.com.
Ramachandran V; Guru Gobind Singh Indraprastha University, Dwarka, New Delhi, India. pandita.shwet07@gmail.com.
Balakrishnan P; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Rolfs A; South West Thames Regional Genetics Laboratory, St. George's University Hospitals NHS Foundation Trust, London, SW17 0QT, UK.
Brandau O; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Eichler S; Centogene AG, Rostock, Germany.
Bhalla AK; Centogene AG, Rostock, Germany.
Khullar D; Centogene AG, Rostock, Germany.
Amitabh V; Institute of Renal Sciences, Sir Ganga Ram Hospital, New Delhi, India.
Ramanarayanan S; Department of Nephrology & Renal Transplant Medicine, Max Super Speciality Hospital, New Delhi, India.
Kher V; Department of Nephrology, Safdarjung Hospital, New Delhi, India.
Verma J; Department of Nephrology, PGIMER-Dr Ram Manohar Lohia Hospital, Delhi, India.
Kohli S; Division of Nephrology & Renal Transplant Medicine, Fortis Escorts, New Delhi, India.
Saxena R; Division of Nephrology & Renal Transplant Medicine, Fortis Escorts, New Delhi, India.
Verma IC; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

J Hum Genet ; 64(5): 409-419, 2019 May.

Article em En | MEDLINE | ID: mdl-30816285

Assuntos

Ligação Genética; Variação Genética; Rim Policístico Autossômico Dominante/genética; Canais de Cátion TRPP/genética; Adolescente; Adulto; Idoso; Idoso de 80 Anos ou mais; Feminino; Humanos; Índia; Masculino; Pessoa de Meia-Idade

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Rim Policístico Autossômico Dominante / Canais de Cátion TRPP / Ligação Genética Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Índia País de publicação: Reino Unido

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