rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
4
|
pubmed:dateCreated |
1997-10-15
|
pubmed:databankReference |
|
pubmed:abstractText |
Three cDNA clones for the Machado-Joseph disease gene (MJD1) were isolated, two of which have a new exon sequence and a distinct 3' terminal nucleotide sequence resulting in a new carboxyl terminal domain in the translated product. The nucleotide sequence of the other one is similar to the previously published one except for five polymorphisms, one of which is a single nucleotide substitution resulting in a change from the stop codon (TAA; allele A) to a tyrosine residue (TAC; allele C). Genetic analysis results suggest that Japanese MJD mutations are associated with allele A.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Aug
|
pubmed:issn |
0168-0102
|
pubmed:author |
pubmed-author:EndoKK,
pubmed-author:GasparCC,
pubmed-author:GotoJJ,
pubmed-author:IchikawaYY,
pubmed-author:IgarashiSS,
pubmed-author:IharaNN,
pubmed-author:KanazawaII,
pubmed-author:MacielPP,
pubmed-author:RouleauG AGA,
pubmed-author:SeeM RMR,
pubmed-author:TakiyamaYY,
pubmed-author:TsujiSS,
pubmed-author:WatanabeMM
|
pubmed:issnType |
Print
|
pubmed:volume |
28
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
373-7
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:9274833-Amino Acid Sequence,
pubmed-meshheading:9274833-Base Sequence,
pubmed-meshheading:9274833-Codon,
pubmed-meshheading:9274833-Humans,
pubmed-meshheading:9274833-Machado-Joseph Disease,
pubmed-meshheading:9274833-Molecular Sequence Data,
pubmed-meshheading:9274833-Nerve Tissue Proteins,
pubmed-meshheading:9274833-Nuclear Proteins,
pubmed-meshheading:9274833-Polymorphism, Genetic,
pubmed-meshheading:9274833-Repressor Proteins
|
pubmed:year |
1997
|
pubmed:articleTitle |
Machado-Joseph disease gene products carrying different carboxyl termini.
|
pubmed:affiliation |
Department of Neurology, Institute for Brain Research, Faculty of Medicine, University of Tokyo, Japan.
|
pubmed:publicationType |
Journal Article,
Review
|