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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 |
1999-1-20
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pubmed:abstractText |
To describe the phenotype caused by a retinol deficiency in a family with compound heterozygous missense mutations (Ile41Asn and Gly75Asp) in the gene for serum retinol binding protein (RBP).
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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 |
Jan
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pubmed:issn |
0146-0404
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
40
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3-11
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9888420-Adolescent,
pubmed-meshheading:9888420-Atrophy,
pubmed-meshheading:9888420-Avitaminosis,
pubmed-meshheading:9888420-Coloboma,
pubmed-meshheading:9888420-Color Perception Tests,
pubmed-meshheading:9888420-Dark Adaptation,
pubmed-meshheading:9888420-Electrooculography,
pubmed-meshheading:9888420-Electroretinography,
pubmed-meshheading:9888420-Female,
pubmed-meshheading:9888420-Humans,
pubmed-meshheading:9888420-Iris,
pubmed-meshheading:9888420-Mutation, Missense,
pubmed-meshheading:9888420-Night Blindness,
pubmed-meshheading:9888420-Nuclear Family,
pubmed-meshheading:9888420-Phenotype,
pubmed-meshheading:9888420-Photoreceptor Cells, Vertebrate,
pubmed-meshheading:9888420-Pigment Epithelium of Eye,
pubmed-meshheading:9888420-Retinol-Binding Proteins,
pubmed-meshheading:9888420-Visual Acuity,
pubmed-meshheading:9888420-Visual Field Tests,
pubmed-meshheading:9888420-Vitamin A
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pubmed:year |
1999
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pubmed:articleTitle |
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.
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pubmed:affiliation |
University Eye Hospital, Department II, Tübingen, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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