Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Sergeev, Y V; Caruso, R C; Meltzer, M R; Smaoui, N; MacDonald, I M; Sieving, P A

Sergeev, Y V; Caruso, R C; Meltzer, M R; Smaoui, N; MacDonald, I M; Sieving, P A.

Affiliation

Sergeev YV; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. sergeevy@nei.nih.gov

Hum Mol Genet ; 19(7): 1302-13, 2010 Apr 01.

Article in En | MEDLINE | ID: mdl-20061330

Subject(s)

Eye Proteins/genetics; Models, Molecular; Mutation; Retinoschisis/genetics; Adolescent; Adult; Age Factors; Aged; Child; Cysteine/chemistry; Electroretinography; Eye Proteins/chemistry; Humans; Male; Middle Aged; Molecular Sequence Data; Molecular Structure; Phenotype

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Models, Molecular / Retinoschisis / Eye Proteins / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Humans / Male / Middle aged Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2010 Type: Article Affiliation country: United States

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