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8815938
Source:
http://linkedlifedata.com/resource/pubmed/id/8815938
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Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0016719
,
umls-concept:C0030705
,
umls-concept:C0205210
,
umls-concept:C0262496
pubmed:issue
16
pubmed:dateCreated
1997-1-23
pubmed:abstractText
Friedreich's ataxia, the most common inherited ataxia, is associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin gene on chromosome 9, which encodes a protein of unknown function.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8815938-8815946
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8815938-9091785
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8815938-9091786
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0255562
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0028-4793
pubmed:author
pubmed-author:AgidYY
,
pubmed-author:BriceAA
,
pubmed-author:CampuzanoVV
,
pubmed-author:CosseeMM
,
pubmed-author:DürrAA
,
pubmed-author:KoenigMM
,
pubmed-author:MandelJ LJL
,
pubmed-author:MignardCC
,
pubmed-author:PenetCC
pubmed:issnType
Print
pubmed:day
17
pubmed:volume
335
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1169-75
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:8815938-Adolescent
,
pubmed-meshheading:8815938-Adult
,
pubmed-meshheading:8815938-Age of Onset
,
pubmed-meshheading:8815938-Base Sequence
,
pubmed-meshheading:8815938-Child
,
pubmed-meshheading:8815938-Child, Preschool
,
pubmed-meshheading:8815938-Chromosomes, Human, Pair 9
,
pubmed-meshheading:8815938-Disease Progression
,
pubmed-meshheading:8815938-Female
,
pubmed-meshheading:8815938-Friedreich Ataxia
,
pubmed-meshheading:8815938-Homozygote
,
pubmed-meshheading:8815938-Humans
,
pubmed-meshheading:8815938-Male
,
pubmed-meshheading:8815938-Middle Aged
,
pubmed-meshheading:8815938-Molecular Sequence Data
,
pubmed-meshheading:8815938-Phenotype
,
pubmed-meshheading:8815938-Regression Analysis
,
pubmed-meshheading:8815938-Trinucleotide Repeats
pubmed:year
1996
pubmed:articleTitle
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
pubmed:affiliation
Fédération de Neurologie and INSERM Unité 289, Hôpital de la Saltpétriere, Paris, France.
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't