|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0009221,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0033382,
umls-concept:C0035304,
umls-concept:C0035334,
umls-concept:C0036720,
umls-concept:C0070435,
umls-concept:C0205210,
umls-concept:C0439834,
umls-concept:C0443147,
umls-concept:C2348519
|
|
pubmed:issue |
8
|
|
pubmed:dateCreated |
1994-9-12
|
|
pubmed:abstractText |
Mutations in the human peripherin/retinal degeneration slow (rds) gene have been found in patients with macular dystrophies as well as in those with autosomal dominant retinitis pigmentosa. The authors studied the clinical features in members of two families with autosomal dominant retinitis pigmentosa and a previously unreported mutation in the peripherin/rds gene.
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|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
0161-6420
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
101
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
1409-21
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:8058286-Adolescent,
pubmed-meshheading:8058286-Adult,
pubmed-meshheading:8058286-Aged,
pubmed-meshheading:8058286-Base Sequence,
pubmed-meshheading:8058286-Child,
pubmed-meshheading:8058286-Codon,
pubmed-meshheading:8058286-DNA,
pubmed-meshheading:8058286-DNA Primers,
pubmed-meshheading:8058286-Electroretinography,
pubmed-meshheading:8058286-Eye Proteins,
pubmed-meshheading:8058286-Female,
pubmed-meshheading:8058286-Humans,
pubmed-meshheading:8058286-Intermediate Filament Proteins,
pubmed-meshheading:8058286-Male,
pubmed-meshheading:8058286-Membrane Glycoproteins,
pubmed-meshheading:8058286-Middle Aged,
pubmed-meshheading:8058286-Molecular Sequence Data,
pubmed-meshheading:8058286-Mutation,
pubmed-meshheading:8058286-Nerve Tissue Proteins,
pubmed-meshheading:8058286-Pedigree,
pubmed-meshheading:8058286-Retinal Degeneration,
pubmed-meshheading:8058286-Retinitis Pigmentosa,
pubmed-meshheading:8058286-Visual Fields
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|
pubmed:year |
1994
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|
pubmed:articleTitle |
Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
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|
pubmed:affiliation |
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, College of Medicine 60612.
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|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|
