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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2002-8-22
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pubmed:abstractText |
To determine the phenotypic variability in patients with compound heterozygous or homozygous ABCA4 mutations, and to correlate the phenotypes with the functional properties of the altered protein.
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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 |
Aug
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pubmed:issn |
0721-832X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
240
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
628-38
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:12192456-ATP-Binding Cassette Transporters,
pubmed-meshheading:12192456-Adolescent,
pubmed-meshheading:12192456-Adult,
pubmed-meshheading:12192456-Age of Onset,
pubmed-meshheading:12192456-Child,
pubmed-meshheading:12192456-Color Perception,
pubmed-meshheading:12192456-Electrooculography,
pubmed-meshheading:12192456-Electroretinography,
pubmed-meshheading:12192456-Female,
pubmed-meshheading:12192456-Genetic Variation,
pubmed-meshheading:12192456-Genotype,
pubmed-meshheading:12192456-Humans,
pubmed-meshheading:12192456-Macular Degeneration,
pubmed-meshheading:12192456-Male,
pubmed-meshheading:12192456-Middle Aged,
pubmed-meshheading:12192456-Mutation,
pubmed-meshheading:12192456-Phenotype,
pubmed-meshheading:12192456-Photoreceptor Cells, Vertebrate,
pubmed-meshheading:12192456-Psychophysics,
pubmed-meshheading:12192456-Visual Acuity,
pubmed-meshheading:12192456-Visual Fields
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pubmed:year |
2002
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pubmed:articleTitle |
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
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pubmed:affiliation |
Department of Paediatric Opthalmology, Strabismology and Opthalmogenetics, Klinikum, University of Regensburg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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