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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
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|
pubmed:dateCreated |
1998-1-8
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|
pubmed:abstractText |
We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA.
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1015-8146
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
8
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|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
189-94
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|
pubmed:dateRevised |
2006-7-6
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|
pubmed:meshHeading |
pubmed-meshheading:9327260-Adult,
pubmed-meshheading:9327260-Chromosomes, Human, Pair 9,
pubmed-meshheading:9327260-Female,
pubmed-meshheading:9327260-France,
pubmed-meshheading:9327260-Friedreich Ataxia,
pubmed-meshheading:9327260-Genetic Markers,
pubmed-meshheading:9327260-Genome,
pubmed-meshheading:9327260-Humans,
pubmed-meshheading:9327260-Male,
pubmed-meshheading:9327260-Pedigree,
pubmed-meshheading:9327260-Trinucleotide Repeats
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|
pubmed:year |
1997
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|
pubmed:articleTitle |
Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families.
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|
pubmed:affiliation |
Regional Center of Neurogenetics, Maison Blanche Hospital, Reims, France.
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pubmed:publicationType |
Journal Article
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