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Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Ramsey, Keri; Belnap, Newell; Bonfitto, Anna; Jepsen, Wayne; Naymik, Marcus; Sanchez-Castillo, Meredith; Craig, David W; Szelinger, Szabolcs; Huentelman, Matthew J; Narayanan, Vinodh; Rangasamy, Sampath.
Afiliação
  • Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Belnap N; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Bonfitto A; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Jepsen W; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Naymik M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Sanchez-Castillo M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Craig DW; Department of Translational Genomics, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
  • Szelinger S; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Huentelman MJ; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Rangasamy S; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Mol Genet Genomic Med ; 10(2): e1857, 2022 02.
Article em En | MEDLINE | ID: mdl-34994087
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Proteínas do Tecido Nervoso Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Proteínas do Tecido Nervoso Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article