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Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Llaci, Lorida; Ramsey, Keri; Belnap, Newell; Claasen, Ana M; Balak, Chris D; Szelinger, Szabolcs; Jepsen, Wayne M; Siniard, Ashley L; Richholt, Ryan; Izat, Tyler; Naymik, Marcus; De Both, Matt; Piras, Ignazio S; Craig, David W; Huentelman, Matthew J; Narayanan, Vinodh; Schrauwen, Isabelle; Rangasamy, Sampathkumar.
Afiliación
  • Llaci L; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Ramsey K; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Belnap N; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Claasen AM; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Balak CD; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Szelinger S; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Jepsen WM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Siniard AL; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Richholt R; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Izat T; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Naymik M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • De Both M; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Piras IS; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Craig DW; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Huentelman MJ; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Narayanan V; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Schrauwen I; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
  • Rangasamy S; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
Hum Genet ; 138(11-12): 1409-1417, 2019 Dec.
Article en En | MEDLINE | ID: mdl-31748968
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Proteínas Qb-SNARE / Proteínas Qc-SNARE / Heterocigoto / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Proteínas Qb-SNARE / Proteínas Qc-SNARE / Heterocigoto / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Alemania