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Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
Lee, Jennifer J; Ramadesikan, Swetha; Black, Adrianna F; Christoffer, Charles; Pacheco, Andres F Pacheco; Subramanian, Sneha; Hanna, Claudia B; Barth, Gillian; Stauffacher, Cynthia V; Kihara, Daisuke; Aguilar, Ruben Claudio.
Afiliación
  • Lee JJ; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Ramadesikan S; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.
  • Black AF; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Christoffer C; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.
  • Pacheco AFP; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Subramanian S; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.
  • Hanna CB; Department of Computer Science, Purdue University, West Lafayette, IN 47907, USA.
  • Barth G; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Stauffacher CV; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.
  • Kihara D; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Aguilar RC; Purdue Institute for Cancer Research, Purdue University, West Lafayette, IN 47907, USA.
Biomolecules ; 13(4)2023 03 29.
Article en En | MEDLINE | ID: mdl-37189363
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome Oculocerebrorrenal Límite: Humans Idioma: En Revista: Biomolecules Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome Oculocerebrorrenal Límite: Humans Idioma: En Revista: Biomolecules Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos