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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2004-9-14
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pubmed:abstractText |
Congenital nystagmus (CN) is an eye-movement disorder that usually starts within the first months of life. Autosomal dominant, autosomal recessive, and X-chromosomal pedigree patterns are observed. Causative genes are yet unknown. Several loci were implicated to contain disease-relevant genes for autosomal dominant CN (AD CN). AD CN cosegregated with a balanced translocation of 7;15 in a family. In a large black pedigree linkage was demonstrated to 6p12.
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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 |
Sep
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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 |
138
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
439-43
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15364228-Chromosomes, Human, Pair 15,
pubmed-meshheading:15364228-Chromosomes, Human, Pair 6,
pubmed-meshheading:15364228-Chromosomes, Human, Pair 7,
pubmed-meshheading:15364228-DNA,
pubmed-meshheading:15364228-Electrooculography,
pubmed-meshheading:15364228-Female,
pubmed-meshheading:15364228-Genes, Dominant,
pubmed-meshheading:15364228-Genetic Linkage,
pubmed-meshheading:15364228-Genetic Markers,
pubmed-meshheading:15364228-Germany,
pubmed-meshheading:15364228-Haplotypes,
pubmed-meshheading:15364228-Humans,
pubmed-meshheading:15364228-Male,
pubmed-meshheading:15364228-Nystagmus, Congenital,
pubmed-meshheading:15364228-Pedigree,
pubmed-meshheading:15364228-Polymerase Chain Reaction,
pubmed-meshheading:15364228-Visual Acuity
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pubmed:year |
2004
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pubmed:articleTitle |
Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family.
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pubmed:affiliation |
Department of Neurology, Philipps-University, Marburg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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