|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
9
|
|
pubmed:dateCreated |
2007-5-28
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|
pubmed:abstractText |
Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0366-6999
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|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
5
|
|
pubmed:volume |
120
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
820-4
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:17531125-Amino Acid Sequence,
pubmed-meshheading:17531125-Cataract,
pubmed-meshheading:17531125-Female,
pubmed-meshheading:17531125-Genes, Dominant,
pubmed-meshheading:17531125-Genetic Linkage,
pubmed-meshheading:17531125-Humans,
pubmed-meshheading:17531125-Male,
pubmed-meshheading:17531125-Molecular Sequence Data,
pubmed-meshheading:17531125-Mutation, Missense,
pubmed-meshheading:17531125-beta-Crystallin B Chain
|
|
pubmed:year |
2007
|
|
pubmed:articleTitle |
A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract.
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|
pubmed:affiliation |
Beijing Tongren Eye Center, Capital Medical University, Beijing 100730, China.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
