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Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
Ng, Bobby G; Lourenço, Charles M; Losfeld, Marie-Estelle; Buckingham, Kati J; Kircher, Martin; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael J; Freeze, Hudson H.
  • Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
  • Lourenço CM; Clinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Brazil.
  • Losfeld ME; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
  • Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, Washington.
  • Kircher M; Department of Genome Sciences, University of Washington, Seattle, Washington.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington.
  • Shendure J; Department of Genome Sciences, University of Washington, Seattle, Washington.
  • Bamshad MJ; Howard Hughes Medical Institute, University of Washington, Seattle, Washington.
  • Freeze HH; Department of Genome Sciences, University of Washington, Seattle, Washington.
J Inherit Metab Dis ; 42(5): 993-997, 2019 09.
Article en En | MEDLINE | ID: mdl-30945312
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al Calcio / Glicoproteínas de Membrana / Discapacidades del Desarrollo / Receptores de Péptidos / Receptores Citoplasmáticos y Nucleares / Trastornos Congénitos de Glicosilación / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al Calcio / Glicoproteínas de Membrana / Discapacidades del Desarrollo / Receptores de Péptidos / Receptores Citoplasmáticos y Nucleares / Trastornos Congénitos de Glicosilación / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article