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Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.
Fareed, Mohd; Makkar, Vikas; Angral, Ravi; Afzal, Mohammad; Singh, Gurdarshan.
Afiliação
  • Fareed M; PK-PD Formulation and Toxicology Division, CSIR Indian Institute of Integrative Medicine, Canal Road, Jammu, 180001, India. mohdfareedk@gmail.com.
  • Makkar V; Academy of Scientific & Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India. mohdfareedk@gmail.com.
  • Angral R; Department of Nephrology, Dayanand Medical College and Hospital, Ludhiana, Punjab, 141001, India.
  • Afzal M; Visiting Consultant Renal Transplant, Dayanand Medical College and Hospital, Ludhiana, Punjab, 141001, India.
  • Singh G; Human Genetics & Toxicology Laboratory, Section of Genetics, Department of Zoology, Aligarh Muslim University, Aligarh, Uttar Pradesh, 202002, India.
Sci Rep ; 11(1): 13337, 2021 06 25.
Article em En | MEDLINE | ID: mdl-34172776
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Quinases / Mutação / Síndrome Nefrótica Tipo de estudo: Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Quinases / Mutação / Síndrome Nefrótica Tipo de estudo: Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article