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Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
Tambe, Mitali A; Ng, Bobby G; Shimada, Shino; Wolfe, Lynne A; Adams, David R; Gahl, William A; Bamshad, Michael J; Nickerson, Deborah A; Malicdan, May C V; Freeze, Hudson H.
Afiliación
  • Tambe MA; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Shimada S; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Wolfe LA; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Adams DR; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Gahl WA; Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA.
  • Bamshad MJ; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Nickerson DA; Section of Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, Maryland, USA.
  • Malicdan MCV; Department of Pediatrics, University of Washington Seattle, Seattle, Washington, USA.
  • Freeze HH; Department of Genome Sciences, University of Washington Seattle, University of Washington Centre for Mendelian Genomics, Seattle, Washington, USA.
J Inherit Metab Dis ; 43(5): 1037-1045, 2020 09.
Article en En | MEDLINE | ID: mdl-32395830
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Chaperonas Moleculares / Trastornos Congénitos de Glicosilación / Retículo Endoplásmico / Aparato de Golgi Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Chaperonas Moleculares / Trastornos Congénitos de Glicosilación / Retículo Endoplásmico / Aparato de Golgi Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos