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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2001-1-26
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pubmed:abstractText |
A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutation in the rhodopsin gene. The mutation was the transition T-->C in codon 186, which has been reported once before in an American patient (Dryja et al., Proc Natl Acad Sci USA 1991;88:9370-9374). This change replaces a serine by a proline in the second intradiscal loop of the protein, generating a molecule that is probably folding- and transport-defective.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1381-6810
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
251-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11135497-Adult,
pubmed-meshheading:11135497-DNA Mutational Analysis,
pubmed-meshheading:11135497-Electroretinography,
pubmed-meshheading:11135497-Female,
pubmed-meshheading:11135497-Fundus Oculi,
pubmed-meshheading:11135497-Genes, Dominant,
pubmed-meshheading:11135497-Genotype,
pubmed-meshheading:11135497-Humans,
pubmed-meshheading:11135497-Male,
pubmed-meshheading:11135497-Middle Aged,
pubmed-meshheading:11135497-Pedigree,
pubmed-meshheading:11135497-Phenotype,
pubmed-meshheading:11135497-Point Mutation,
pubmed-meshheading:11135497-Polymerase Chain Reaction,
pubmed-meshheading:11135497-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11135497-Proline,
pubmed-meshheading:11135497-Retinitis Pigmentosa,
pubmed-meshheading:11135497-Rhodopsin,
pubmed-meshheading:11135497-Serine,
pubmed-meshheading:11135497-Spain,
pubmed-meshheading:11135497-Visual Fields
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pubmed:year |
2000
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pubmed:articleTitle |
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.
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pubmed:affiliation |
Department of Genetics, Universidad Autonoma, Fundacion Jimenez Diaz, Madrid, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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