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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2000-11-8
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pubmed:abstractText |
We have been engaged in an ongoing study to screen candidate genes for mutations in small families with various forms of autosomal recessive retinal dystrophy. Here we report the screening of a cohort of 14 families from Sardinia for mutations in the genes encoding the alpha- and beta-subunits of cGMP-phosphodiesterase and RPE65 (PDE6A, PDE6B, and RPE65).
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pubmed:grant |
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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 |
Oct
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pubmed:issn |
1090-0535
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
30
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
192-8
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:11062306-3',5'-Cyclic-GMP Phosphodiesterases,
pubmed-meshheading:11062306-Base Sequence,
pubmed-meshheading:11062306-Carrier Proteins,
pubmed-meshheading:11062306-Cohort Studies,
pubmed-meshheading:11062306-DNA Mutational Analysis,
pubmed-meshheading:11062306-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:11062306-Electroretinography,
pubmed-meshheading:11062306-Eye Proteins,
pubmed-meshheading:11062306-Female,
pubmed-meshheading:11062306-Frameshift Mutation,
pubmed-meshheading:11062306-Genetic Testing,
pubmed-meshheading:11062306-Haplotypes,
pubmed-meshheading:11062306-Humans,
pubmed-meshheading:11062306-Italy,
pubmed-meshheading:11062306-Male,
pubmed-meshheading:11062306-Molecular Sequence Data,
pubmed-meshheading:11062306-Mutation, Missense,
pubmed-meshheading:11062306-Pedigree,
pubmed-meshheading:11062306-Pigment Epithelium of Eye,
pubmed-meshheading:11062306-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11062306-Proteins,
pubmed-meshheading:11062306-Retinal Degeneration,
pubmed-meshheading:11062306-Sequence Deletion,
pubmed-meshheading:11062306-Visual Acuity
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pubmed:year |
2000
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pubmed:articleTitle |
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
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pubmed:affiliation |
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA 90095-7008, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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