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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1995-6-29
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pubmed:abstractText |
Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.
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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 |
Feb
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pubmed:issn |
0890-8508
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
67-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7760863-Adolescent,
pubmed-meshheading:7760863-Adult,
pubmed-meshheading:7760863-Amino Acid Sequence,
pubmed-meshheading:7760863-Aspartic Acid,
pubmed-meshheading:7760863-Base Sequence,
pubmed-meshheading:7760863-Codon,
pubmed-meshheading:7760863-Female,
pubmed-meshheading:7760863-Genes, Dominant,
pubmed-meshheading:7760863-Glycine,
pubmed-meshheading:7760863-Humans,
pubmed-meshheading:7760863-Male,
pubmed-meshheading:7760863-Middle Aged,
pubmed-meshheading:7760863-Molecular Sequence Data,
pubmed-meshheading:7760863-Pedigree,
pubmed-meshheading:7760863-Point Mutation,
pubmed-meshheading:7760863-Polymorphism, Genetic,
pubmed-meshheading:7760863-Retinitis Pigmentosa,
pubmed-meshheading:7760863-Rhodopsin
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pubmed:year |
1995
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pubmed:articleTitle |
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.
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pubmed:affiliation |
Unidad de Genética y Diag, Prenatal, Hospital La Fe, Valencia, Spain.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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