Linked Life Data

12713148

Source:http://linkedlifedata.com/resource/pubmed/id/12713148

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-4-25
pubmed:databankReference
pubmed:abstractText
Historical aspects of a local cluster of individuals with lysinuric protein intolerance (LPI) were studied in a sample of patients and in a mass-screened population in a northern area of Japan. The historical aspects were investigated by estimating the mutation age and analyses of haplotype diversity of the chromosome carrying the R410X mutation. This mutation occurred over 1000 years ago, and its fixation in the local cluster suggests that LPI had been a nearly neutral phenotype. The present results also give an estimate of the geographical distribution of the R410X mutation, providing a basis for targeting populations for mass screening for LPI.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0018-7143
pubmed:author
pubmed:issnType
Print
pubmed:volume
75
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
81-90
pubmed:dateRevised
2011-4-18
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan.
pubmed:affiliation
Department of Global Health and Socio-Epidemiology, Kyoto University, School of Public Health, Kyoto, 606-8501 Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't