|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0019425,
umls-concept:C0026882,
umls-concept:C0205314,
umls-concept:C0220912,
umls-concept:C0220913,
umls-concept:C0266539,
umls-concept:C0266544,
umls-concept:C0560175,
umls-concept:C0679622,
umls-concept:C1314792,
umls-concept:C1439327,
umls-concept:C1706209
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2007-11-26
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|
pubmed:abstractText |
To determine the genetic basis for congenital total white cataract with microcornea in three affected siblings.
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pubmed:commentsCorrections |
|
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
0002-9394
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
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pubmed:volume |
144
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
949-952
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pubmed:dateRevised |
2008-4-1
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pubmed:meshHeading |
pubmed-meshheading:17937925-Cataract,
pubmed-meshheading:17937925-Chromosome Mapping,
pubmed-meshheading:17937925-Cornea,
pubmed-meshheading:17937925-Crystallins,
pubmed-meshheading:17937925-DNA Mutational Analysis,
pubmed-meshheading:17937925-Eye Abnormalities,
pubmed-meshheading:17937925-Female,
pubmed-meshheading:17937925-Genes, Recessive,
pubmed-meshheading:17937925-Heterozygote Detection,
pubmed-meshheading:17937925-Humans,
pubmed-meshheading:17937925-Lod Score,
pubmed-meshheading:17937925-Male,
pubmed-meshheading:17937925-Mutation, Missense,
pubmed-meshheading:17937925-Pedigree
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|
pubmed:year |
2007
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|
pubmed:articleTitle |
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
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|
pubmed:affiliation |
Pediatric Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
