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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2002-11-13
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pubmed:abstractText |
To describe the clinical features and identify the mutation responsible for an autosomal dominant vitreoretinal degeneration occurring in a previously unreported large family.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0002-9394
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
134
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
720-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:12429249-Adolescent,
pubmed-meshheading:12429249-Adult,
pubmed-meshheading:12429249-Child,
pubmed-meshheading:12429249-Child, Preschool,
pubmed-meshheading:12429249-Codon, Terminator,
pubmed-meshheading:12429249-Cohort Studies,
pubmed-meshheading:12429249-Collagen Type II,
pubmed-meshheading:12429249-Connective Tissue Diseases,
pubmed-meshheading:12429249-DNA Mutational Analysis,
pubmed-meshheading:12429249-Exons,
pubmed-meshheading:12429249-Eye Diseases, Hereditary,
pubmed-meshheading:12429249-Female,
pubmed-meshheading:12429249-Genetic Linkage,
pubmed-meshheading:12429249-Humans,
pubmed-meshheading:12429249-Incidence,
pubmed-meshheading:12429249-Male,
pubmed-meshheading:12429249-Middle Aged,
pubmed-meshheading:12429249-Mutation,
pubmed-meshheading:12429249-Pedigree,
pubmed-meshheading:12429249-Retinal Degeneration,
pubmed-meshheading:12429249-Retinal Detachment,
pubmed-meshheading:12429249-Sequence Analysis, DNA,
pubmed-meshheading:12429249-Syndrome,
pubmed-meshheading:12429249-Vitreous Body
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pubmed:year |
2002
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pubmed:articleTitle |
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.
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pubmed:affiliation |
Henry and Corinne Bower Laboratory, Wills Eye Hospital, Philadelphia, Pennsylvania 19107, USA. ldonoso@vision-research.org
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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