Linked Life Data

1972019

Source:http://linkedlifedata.com/resource/pubmed/id/1972019

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1990-7-17
pubmed:abstractText
Enzymatically amplified RNA transcripts were used to analyze the full coding region of the glucocerebrosidase gene from Gaucher disease patients. Two previously undescribed mutations were identified. One mutation consists of a single-base substitution in three different codons: codon 444, Leu (CTG) to Pro (CCG); codon 456, Ala (GCT) to Pro (CCT); and codon 460, Val (GTG) to Val (GTC). This mutant is called "pseudo pattern" (psi) because it is identical in sequence to a small region of the pseudogene in exon 10 (Horowitz et al., 1989). The other new mutation is a single-base substitution (C to T) resulting in the substitution of Cys for Arg in codon 463. These mutations in the human gene were duplicated in wild-type cDNA and expressed in 3T3 cells. The human mutant proteins were isolated by immunoaffinity and shown to have altered enzymatic properties demonstrating the causality of these two allelic mutations for Gaucher disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1044-5498
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
233-41
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Sequence of two alleles responsible for Gaucher disease.
pubmed:affiliation
Section of Molecular Genetics, University of Southern California, School of Medicine, Childrens Hospital, Los Angeles 90027.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't