Linked Life Data

10502784

Source:http://linkedlifedata.com/resource/pubmed/id/10502784

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1999-10-7
pubmed:abstractText
A British patient with EDS VI had two novel null mutations in the lysyl hydroxylase gene, one nucleotide deletion in the acceptor splice site of intron 4 in one allele, and an insertion of a C nucleotide in exon 2 of the other allele. The abnormal alleles lead to a markedly decreased lysyl hydroxylase mRNA levels, the finding making the affected cells different from the normal cells. In addition to the mutation analysis, we have revealed many exon-deleted splicing variants for lysyl hydroxylase mRNA which were first discovered in the affected cells, but tracks of similarly spliced mRNA species are also found in the cytoplasm of normal human skin fibroblasts. The data suggest that the splicing machinery of the cell is leaky generating differently spliced transcripts in the cell but only in a small amounts.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright 1999 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
351
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI.
pubmed:affiliation
Department of Biochemistry, University of Oulu, Oulu, Finland.
pubmed:publicationType
Journal Article