Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1996-12-5
pubmed:abstractText
The incidence of phenylketonuria (PKU) in Finland is extremely low, probably below 1 in 100,000. We describe the mutations and haplotypes in all four presently known patients. Mutation R408W was found on four mutant chromosomes (all haplotype 2), and IVS7nt1, R261Q, and IVS2nt1 were each found on a single chromosome. No mutation was found on the remaining chromosome. These findings support a pronounced negative founder effect as the cause of the low incidence of PKU in Finland, and are consistent with existing data regarding the European and Baltic origin of Finnish genes.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-1258990, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-1301942, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-1325604, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-1345170, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-1361100, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-19975693, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-281092, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-2883110, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-2884570, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-4584134, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-4680662, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-6083364, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-7825588, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-7833927, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-7923357, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-8230163, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-8268925, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-8406445, http://linkedlifedata.com/resource/pubmed/commentcorrection/8825928-9556654
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
32
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
976-8
pubmed:dateRevised
2010-9-10
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.
pubmed:affiliation
Danish Centre for Human Genome Research, John F Kennedy Institute, Glostrup, Denmark.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't