Linked Life Data

8514320

Source:http://linkedlifedata.com/resource/pubmed/id/8514320

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1993-7-19
pubmed:abstractText
A gene locus for autosomal dominant cerebellar ataxia (ADCA) has been found on chromosome 6p and named spinocerebellar ataxia 1. However, linkage exclusion from chromosome 6p and thus locus heterogeneity has been proven in Cuban ADCA, the largest known collective of ADCA patients, probably due to a founder effect. Two chromosomal regions were analyzed for linkage to Cuban ADCA: chromosome 4, since a pericentromeric inversion has been reported in a member of a European ADCA family, and chromosome 11q22-23, since it is known to contain the gene locus for ataxia telangiectasia, the main autosomal recessive disorder of cerebellar degeneration. In neither region was evidence for linkage found.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0001-5652
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
12-20
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:articleTitle
Search for the chromosomal location of autosomal dominant cerebellar ataxia from Holguin, Cuba: exclusion from candidate regions on chromosome 4 and 11q.
pubmed:affiliation
National Center of Medical Genetics, Havanna, Cuba.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't