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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2005-7-20
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pubmed:abstractText |
To present a previously unreported four generation affected Mexican pedigree with congenital hereditary aculeiform cataract caused by a mutation in the gammaD-crystallin (CRYGD) gene.
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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:issn |
1090-0535
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
438-42
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pubmed:dateRevised |
2010-5-21
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pubmed:meshHeading |
pubmed-meshheading:16030500-Cataract,
pubmed-meshheading:16030500-Crystallins,
pubmed-meshheading:16030500-DNA Mutational Analysis,
pubmed-meshheading:16030500-DNA Primers,
pubmed-meshheading:16030500-Female,
pubmed-meshheading:16030500-Genes, Dominant,
pubmed-meshheading:16030500-Genetic Heterogeneity,
pubmed-meshheading:16030500-Humans,
pubmed-meshheading:16030500-Male,
pubmed-meshheading:16030500-Mutation, Missense,
pubmed-meshheading:16030500-Pedigree,
pubmed-meshheading:16030500-Phenotype,
pubmed-meshheading:16030500-Polymerase Chain Reaction,
pubmed-meshheading:16030500-Sequence Analysis, DNA,
pubmed-meshheading:16030500-gamma-Crystallins
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pubmed:year |
2005
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pubmed:articleTitle |
CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.
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pubmed:affiliation |
Department of Genetics, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico. jczenteno@salud.gob.mx
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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