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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0020792,
umls-concept:C0026882,
umls-concept:C0035334,
umls-concept:C0086345,
umls-concept:C1412517,
umls-concept:C1413394,
umls-concept:C1419385,
umls-concept:C1419622,
umls-concept:C1419764,
umls-concept:C1421210,
umls-concept:C1421381,
umls-concept:C1423613,
umls-concept:C1720675
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pubmed:issue |
10
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pubmed:dateCreated |
2001-2-20
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pubmed:abstractText |
To evaluate the occurrence and inheritance of various types of pigmentary retinopathy in patients followed at the outpatient clinic in the university hospital, Montpellier, France. To characterize genes and mutations causing these conditions.
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pubmed:language |
fre
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Adaptor Proteins, Signal Transducing,
http://linkedlifedata.com/resource/pubmed/chemical/Alkyl and Aryl Transferases,
http://linkedlifedata.com/resource/pubmed/chemical/CHM protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Intermediate Filament Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Glycoproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RPE65 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/RS1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/USH2A protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/peripherin,
http://linkedlifedata.com/resource/pubmed/chemical/rab GTP-Binding Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0181-5512
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pubmed:author |
pubmed-author:ArnaudBB,
pubmed-author:BareilCC,
pubmed-author:BazalgetteCC,
pubmed-author:BeaufrèreLL,
pubmed-author:BonnetSS,
pubmed-author:ClaustresMM,
pubmed-author:DuvalP APA,
pubmed-author:EliaouCC,
pubmed-author:GriffoinJ MJM,
pubmed-author:HamelC PCP,
pubmed-author:LasquellecLL,
pubmed-author:MarlhensFF,
pubmed-author:Schmitt-BernardC FCF,
pubmed-author:TufferySS
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pubmed:issnType |
Print
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
985-95
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pubmed:dateRevised |
2006-11-20
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pubmed:meshHeading |
pubmed-meshheading:11139690-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:11139690-Adolescent,
pubmed-meshheading:11139690-Adult,
pubmed-meshheading:11139690-Alkyl and Aryl Transferases,
pubmed-meshheading:11139690-Carrier Proteins,
pubmed-meshheading:11139690-Child,
pubmed-meshheading:11139690-Chromosome Mapping,
pubmed-meshheading:11139690-Extracellular Matrix Proteins,
pubmed-meshheading:11139690-Eye Diseases, Hereditary,
pubmed-meshheading:11139690-Eye Proteins,
pubmed-meshheading:11139690-France,
pubmed-meshheading:11139690-Humans,
pubmed-meshheading:11139690-Intermediate Filament Proteins,
pubmed-meshheading:11139690-Membrane Glycoproteins,
pubmed-meshheading:11139690-Mutation,
pubmed-meshheading:11139690-Nerve Tissue Proteins,
pubmed-meshheading:11139690-Polymerase Chain Reaction,
pubmed-meshheading:11139690-Proteins,
pubmed-meshheading:11139690-Retinal Degeneration,
pubmed-meshheading:11139690-Retinitis Pigmentosa,
pubmed-meshheading:11139690-rab GTP-Binding Proteins
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pubmed:year |
2000
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pubmed:articleTitle |
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].
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pubmed:affiliation |
Laboratoire de Neurobiologie, Inserm U. 254, 71, rue de Navacelles, 34090 Montpellier. hamel@montp.inserm.fr
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pubmed:publicationType |
Journal Article,
English Abstract,
Research Support, Non-U.S. Gov't,
Multicenter Study
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