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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1997-10-2
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pubmed:databankReference |
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pubmed:abstractText |
The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions. SCA7 is the first such disorder in which the degenerative process also affects the retina.
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pubmed:grant |
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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 |
Sep
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AbbasNN,
pubmed-author:AgidYY,
pubmed-author:AntoniouEE,
pubmed-author:BenomarAA,
pubmed-author:BriceAA,
pubmed-author:CancelGG,
pubmed-author:DürrAA,
pubmed-author:DavidGG,
pubmed-author:DrabkinHH,
pubmed-author:GemmillRR,
pubmed-author:GiuntiPP,
pubmed-author:ImbertGG,
pubmed-author:MandelJ LJL,
pubmed-author:RubergMM,
pubmed-author:SaudouFF,
pubmed-author:StevaninGG,
pubmed-author:WeberCC,
pubmed-author:WoodNN,
pubmed-author:YvertGG
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pubmed:issnType |
Print
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pubmed:volume |
17
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
65-70
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:9288099-Adult,
pubmed-meshheading:9288099-Age of Onset,
pubmed-meshheading:9288099-Aged,
pubmed-meshheading:9288099-Alleles,
pubmed-meshheading:9288099-Amino Acid Sequence,
pubmed-meshheading:9288099-Chromosome Mapping,
pubmed-meshheading:9288099-Chromosomes, Artificial, Yeast,
pubmed-meshheading:9288099-Chromosomes, Human, Pair 3,
pubmed-meshheading:9288099-Cloning, Molecular,
pubmed-meshheading:9288099-Female,
pubmed-meshheading:9288099-Genetic Markers,
pubmed-meshheading:9288099-Genetic Variation,
pubmed-meshheading:9288099-Genomic Imprinting,
pubmed-meshheading:9288099-Humans,
pubmed-meshheading:9288099-Male,
pubmed-meshheading:9288099-Middle Aged,
pubmed-meshheading:9288099-Molecular Sequence Data,
pubmed-meshheading:9288099-Nerve Tissue Proteins,
pubmed-meshheading:9288099-Retina,
pubmed-meshheading:9288099-Retinal Degeneration,
pubmed-meshheading:9288099-Spinocerebellar Degenerations,
pubmed-meshheading:9288099-Trinucleotide Repeats
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pubmed:year |
1997
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pubmed:articleTitle |
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
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pubmed:affiliation |
INSERM U289, Hôpital de la Salpêtrière, Paris, France.
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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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