Linked Life Data

11406344

Source:http://linkedlifedata.com/resource/pubmed/id/11406344

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
2001-6-14
pubmed:abstractText
In Gaucher disease patients, over 100 disease-causing mutations have been identified. For identification of the 1504C-->T (R463C) mutation it is common to use PCR-restriction fragmentation analysis using the restriction enzyme MspI. In the present study we investigated the reliability of this approach because accurate determination of genotypes is important in genotype-phenotype correlations. A simple modification, i.e. using the restriction enzyme HphI instead of MspI, revealed that type I and II Gaucher disease patients who had previously been identified as carrying the 1504C-->T mutation in fact carried the 1505G-->A (IVS10(-1)G-->A) mutation. Sequencing of the appropriate fragment confirmed this. The PCR method easily differentiates between these two mutations in Gaucher disease patients, thus circumventing the need for sequencing procedures. The phenotypes of the patients found to be carrying the 1505G-->A mutation are also described.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0006-3002
pubmed:author
pubmed:issnType
Print
pubmed:day
31
pubmed:volume
1536
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
97-102
pubmed:dateRevised
2008-8-29
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
The facile detection of 1505G-->A in Gaucher patients with different phenotypes.
pubmed:affiliation
Department of Enzymology and Cellular Function, Institute of Child Health, Ag. Sophia Children's Hospital, Athens, Greece.
pubmed:publicationType
Journal Article