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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-1-20
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pubmed:abstractText |
To describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-10777785,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-11738025,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-15284225,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-15284851,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-15561999,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-16288196,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-17435967,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-17605048,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-18654668,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-19030905,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20087419-19718270
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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 |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
46-52
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pubmed:dateRevised |
2011-10-10
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pubmed:meshHeading |
pubmed-meshheading:20087419-Adult,
pubmed-meshheading:20087419-Alleles,
pubmed-meshheading:20087419-Amino Acid Sequence,
pubmed-meshheading:20087419-Base Sequence,
pubmed-meshheading:20087419-Cadherins,
pubmed-meshheading:20087419-Chromosome Segregation,
pubmed-meshheading:20087419-DNA Mutational Analysis,
pubmed-meshheading:20087419-Electroretinography,
pubmed-meshheading:20087419-Exons,
pubmed-meshheading:20087419-Family,
pubmed-meshheading:20087419-Female,
pubmed-meshheading:20087419-Fundus Oculi,
pubmed-meshheading:20087419-Humans,
pubmed-meshheading:20087419-Male,
pubmed-meshheading:20087419-Models, Molecular,
pubmed-meshheading:20087419-Molecular Sequence Data,
pubmed-meshheading:20087419-Mutation,
pubmed-meshheading:20087419-Nerve Tissue Proteins,
pubmed-meshheading:20087419-Pedigree,
pubmed-meshheading:20087419-Protein Structure, Tertiary,
pubmed-meshheading:20087419-Retinal Degeneration
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pubmed:year |
2010
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pubmed:articleTitle |
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
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pubmed:affiliation |
Moorfields Eye Hospital, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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