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Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Ramadesikan, Swetha; Skiba, Lisette; Lee, Jennifer; Madhivanan, Kayalvizhi; Sarkar, Daipayan; De La Fuente, Agustina; Hanna, Claudia B; Terashi, Genki; Hazbun, Tony; Kihara, Daisuke; Aguilar, R Claudio.
Afiliación
  • Ramadesikan S; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Skiba L; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Lee J; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Madhivanan K; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Sarkar D; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • De La Fuente A; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Hanna CB; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Terashi G; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Hazbun T; Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, IN 47907, USA.
  • Kihara D; Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
  • Aguilar RC; Department of Computer Science, Purdue University, West Lafayette, IN 47907, USA.
Hum Mol Genet ; 30(3-4): 198-212, 2021 04 26.
Article en En | MEDLINE | ID: mdl-33517444
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Modelos Moleculares / Monoéster Fosfórico Hidrolasas / Mutación / Síndrome Oculocerebrorrenal Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Modelos Moleculares / Monoéster Fosfórico Hidrolasas / Mutación / Síndrome Oculocerebrorrenal Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos