Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene
| Data(s) |
01/01/2005
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| Resumo |
Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. The purpose of this study was to describe the phenotype of a family with PPCRA, determine the mode of inheritance, and identify the causal mutation. |
| Identificador | |
| Idioma(s) |
eng |
| Direitos |
info:eu-repo/semantics/restrictedAccess |
| Fonte |
McKay , G J , Clarke , S , Davis , J A , Simpson , D A C & Silvestri , G 2005 , ' Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene ' Investigative ophthalmology & visual science , vol 46 , no. 1 , pp. 322-8 . DOI: 10.1167/iovs.04-0734 |
| Palavras-Chave | #Adult #Amino Acid Sequence #Atrophy #DNA Mutational Analysis #Eye Proteins #Female #Gene Amplification #Genes, Dominant #Humans #Male #Membrane Proteins #Middle Aged #Models, Molecular #Molecular Sequence Data #Molecular Structure #Nerve Tissue Proteins #Pedigree #Phenotype #Point Mutation #Polymerase Chain Reaction #Retinal Degeneration #Retinal Vein #Tomography, Optical Coherence |
| Tipo |
article |
