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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Bertrand, Renae Elaine; Wang, Jun; Xiong, Kaitlyn H; Thangavel, Chinthana; Qian, Xinye; Ba-Abbad, Rola; Liang, Qingnan; Simões, Renata T; Sampaio, Shirley A M; Carss, Keren J; Lucy Raymond, F; Robson, Anthony G; Webster, Andrew R; Arno, Gavin; Porto, Fernanda Belga Ottoni; Chen, Rui.
Afiliación
  • Bertrand RE; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.
  • Wang J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Xiong KH; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Thangavel C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Qian X; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Ba-Abbad R; Department of BioSciences, Rice University, Houston, TX, USA.
  • Liang Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Simões RT; Department of BioSciences, Rice University, Houston, TX, USA.
  • Sampaio SAM; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.
  • Carss KJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Lucy Raymond F; Moorfields Eye Hospital, London, UK.
  • Robson AG; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.
  • Webster AR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Arno G; Instituto de Ensino e Pesquisa da Santa Casa de Belo Horizonte (IEP/SCBH), Belo Horizonte, Minas Gerais, Brazil.
  • Porto FBO; INRET Clínica e Centro de Pesquisa, Belo Horizonte, Minas Gerais, Brazil.
  • Chen R; Department of Haematology, University of Cambridge, Cambridge, UK.
Genet Med ; 23(3): 488-497, 2021 03.
Article en En | MEDLINE | ID: mdl-33077892

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Degeneración Retiniana / Distrofias Retinianas Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Degeneración Retiniana / Distrofias Retinianas Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos