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Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy.
Shehata, Bahig M; Cundiff, Caitlin A; Lee, Kevin; Sabharwal, Ankit; Lalwani, Mukesh Kumar; Davis, Angela K; Agrawal, Vartika; Sivasubbu, Sridhar; Iannucci, Glen J; Gibson, Greg.
Afiliación
  • Shehata BM; School of Medicine, Emory University, Atlanta, Georgia.
  • Cundiff CA; School of Medicine, Emory University, Atlanta, Georgia.
  • Lee K; School of Biology, CSIR Georgia Institute of Technology, Atlanta, Georgia.
  • Sabharwal A; School of Biology, CSIR Georgia Institute of Technology, Atlanta, Georgia.
  • Lalwani MK; Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Delhi, India.
  • Davis AK; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhavan, New Delhi, India.
  • Agrawal V; Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Delhi, India.
  • Sivasubbu S; School of Medicine, Emory University, Atlanta, Georgia.
  • Iannucci GJ; School of Biology, CSIR Georgia Institute of Technology, Atlanta, Georgia.
  • Gibson G; Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Delhi, India.
Am J Med Genet A ; 167A(9): 2114-21, 2015 Sep.
Article en En | MEDLINE | ID: mdl-25921236
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Complejo III de Transporte de Electrones / Codón sin Sentido / Complejo I de Transporte de Electrón / Exoma / Cardiomiopatías Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Georgia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Complejo III de Transporte de Electrones / Codón sin Sentido / Complejo I de Transporte de Electrón / Exoma / Cardiomiopatías Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Georgia