Linked Life Data

9887370

Source:http://linkedlifedata.com/resource/pubmed/id/9887370

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1999-3-12
pubmed:abstractText
Meleda disease (mal de Meleda) MIM *248300 is an autosomal recessive disorder, clinically characterised by transgressive palmoplantar keratoderma, hyperhidrosis and perioral erythema. It was first described on the Adriatic island of Meleda, where it was relatively common. The prevalence in the general population is estimated to be 1 in 100,000. Linkage analysis of two large consanguineous families from Algeria, including 10 affected individuals, showed strong evidence for localisation of Meleda disease to chromosome 8qter with a maximum two-point lod score for D8S1751 of 8.21 at theta = 0. Analysis of homozygosity regions and recombination events places the gene in a region of at least 3 cM, telomeric to D8S1727. A common haplotype was observed in the two families, suggesting a founder effect.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
542-7
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:articleTitle
Genetic linkage of Meleda disease to chromosome 8qter.
pubmed:affiliation
Généthon, CNRS URA, Evry, France. fischer@genethon.fr
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't