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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2006-7-24
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pubmed:abstractText |
The aim of the present study was to investigate the molecular basis underlying a nonsyndromic presenile autosomal dominant cataract in a three-generation pedigree. The phenotype was progressive from a peripheral ring-like opacity to a total cataract with advancing age from teenage to adulthood. The visual impairment started as problem in distant vision at the age of 16 years, to diminishing vision by the age of 24.
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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 |
12
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
768-73
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16862070-Adult,
pubmed-meshheading:16862070-Arginine,
pubmed-meshheading:16862070-Asian Continental Ancestry Group,
pubmed-meshheading:16862070-Cataract,
pubmed-meshheading:16862070-Disease Progression,
pubmed-meshheading:16862070-Female,
pubmed-meshheading:16862070-Genes, Dominant,
pubmed-meshheading:16862070-Glycine,
pubmed-meshheading:16862070-Humans,
pubmed-meshheading:16862070-India,
pubmed-meshheading:16862070-Molecular Biology,
pubmed-meshheading:16862070-Pedigree,
pubmed-meshheading:16862070-Proteomics,
pubmed-meshheading:16862070-Vision Disorders,
pubmed-meshheading:16862070-alpha-Crystallin A Chain
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pubmed:year |
2006
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pubmed:articleTitle |
Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.
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pubmed:affiliation |
Dr. ALM. Postgraduate Institute of Basic Medical Sciences, Department of Genetics, University of Madras, Taramani, Chennai, India.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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