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Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome.
Ning, Ke; Song, Emilie; Sendayen, Brent E; Prosseda, Philipp P; Chang, Kun-Che; Ghaffarieh, Alireza; Alvarado, Jorge A; Wang, Biao; Haider, Kathryn M; Berbari, Nicolas F; Hu, Yang; Sun, Yang.
Affiliation
  • Ning K; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
  • Song E; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
  • Sendayen BE; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
  • Prosseda PP; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
  • Chang KC; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
  • Ghaffarieh A; Mass Eye and Ear Infirmary, Harvard School of Medicine, Boston, MA, USA.
  • Alvarado JA; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
  • Wang B; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
  • Haider KM; Department of Ophthalmology, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Berbari NF; Department of Biology, Indiana University Purdue University in Indianapolis, Indianapolis, IN, USA.
  • Hu Y; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
  • Sun Y; Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA, USA.
Mol Genet Genomic Med ; 9(1): e1566, 2021 01.
Article de En | MEDLINE | ID: mdl-33306870

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Atrophies optiques héréditaires / Phosphoric monoester hydrolases / Protéines du cytosquelette / Protéines adaptatrices de la transduction du signal / Maladies kystiques rénales / Amaurose congénitale de Leber / Ciliopathies Limites: Child / Humans / Male Langue: En Journal: Mol Genet Genomic Med Année: 2021 Type de document: Article Pays d'affiliation: États-Unis d'Amérique

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Atrophies optiques héréditaires / Phosphoric monoester hydrolases / Protéines du cytosquelette / Protéines adaptatrices de la transduction du signal / Maladies kystiques rénales / Amaurose congénitale de Leber / Ciliopathies Limites: Child / Humans / Male Langue: En Journal: Mol Genet Genomic Med Année: 2021 Type de document: Article Pays d'affiliation: États-Unis d'Amérique