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rdf:type |
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lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0027978,
umls-concept:C0035309,
umls-concept:C0205210,
umls-concept:C0205314,
umls-concept:C0241764,
umls-concept:C0679622,
umls-concept:C1273518,
umls-concept:C1280464,
umls-concept:C1413060,
umls-concept:C1710548,
umls-concept:C1848172
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pubmed:issue |
2
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pubmed:dateCreated |
2005-4-5
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pubmed:abstractText |
To describe the phenotype in a New Zealand family with an unusual severe X-linked retinal disorder with a novel I745T mutation in CACNA1F, the gene responsible for incomplete congenital stationary night blindness (CSNB2).
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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:month |
Apr
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pubmed:issn |
1442-6404
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
129-36
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:15807819-Adolescent,
pubmed-meshheading:15807819-Adult,
pubmed-meshheading:15807819-Aged,
pubmed-meshheading:15807819-Calcium Channels, L-Type,
pubmed-meshheading:15807819-Child,
pubmed-meshheading:15807819-Child, Preschool,
pubmed-meshheading:15807819-Color Vision Defects,
pubmed-meshheading:15807819-Dark Adaptation,
pubmed-meshheading:15807819-Electroretinography,
pubmed-meshheading:15807819-Female,
pubmed-meshheading:15807819-Genetic Diseases, X-Linked,
pubmed-meshheading:15807819-Humans,
pubmed-meshheading:15807819-Infant,
pubmed-meshheading:15807819-Male,
pubmed-meshheading:15807819-Middle Aged,
pubmed-meshheading:15807819-Mutation,
pubmed-meshheading:15807819-New Zealand,
pubmed-meshheading:15807819-Night Blindness,
pubmed-meshheading:15807819-Nystagmus, Congenital,
pubmed-meshheading:15807819-Pedigree,
pubmed-meshheading:15807819-Phenotype,
pubmed-meshheading:15807819-Photoreceptor Cells, Vertebrate,
pubmed-meshheading:15807819-Retinal Degeneration
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pubmed:year |
2005
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pubmed:articleTitle |
Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.
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pubmed:affiliation |
Department of Ophthalmology, University of Auckland, Auckland, New Zealand. chope@middlemore.co.nz
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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