Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. | J Med Genet;39(10): E66, 2002 Oct. | MEDLINE

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Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.

Paloma, E; Martínez-Mir, A; García-Sandoval, B; Ayuso, C; Vilageliu, L; Gonzàlez-Duarte, R; Balcells, S.

Affiliation

Paloma E; Departament de Genactica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.

J Med Genet ; 39(10): E66, 2002 Oct.

Article in En | MEDLINE | ID: mdl-12362048

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Genes, Recessive / Homozygote / Ion Channels / Mutation Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 2002 Document type: Article Affiliation country:

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Genes, Recessive / Homozygote / Ion Channels / Mutation Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 2002 Document type: Article Affiliation country: