Linked Life Data

7914464

Source:http://linkedlifedata.com/resource/pubmed/id/7914464

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1994-9-13
pubmed:abstractText
The infantile form of neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy in children < 2 years old. The disease is one of the Finnish diseases, enriched in this genetically isolated population. The gene responsible for INCL has been recently assigned to the short arm of human chromosome 1. Here we describe DNA-based prenatal and carrier diagnostics using a highly polymorphic marker (HY-TM1) which demonstrates a strong allelic association to the disease locus. 88% of Finnish INCL patients were observed to have the same affected genotype, suggesting that one major CLN1 mutation is enriched in this population. In contrast, all the non-Finnish INCL patients had different allele combinations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
125-32
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.
pubmed:affiliation
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't