Linked Life Data

11668641

Source:http://linkedlifedata.com/resource/pubmed/id/11668641

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2001-10-22
pubmed:abstractText
Thirty two mutations have been found in 35 unrelated patients of European origin with Fabry disease, including 8 females. Twenty of the mutations are novel and comprise of 13 missense: H46Y, W47G, R49P, C94S, F113S, G258R, P259R, Q279H, Q280H, R363H, A377D, P409A, P409T; 1 nonsense: L294X; 5 small deletions: 154delT, 520delT, 909-918del10, 1152-1153delCA, 1235-1236delCT and 1 splice site mutation: IVS5+2t-->c. The remaining 12 mutations have all been reported previously. All patients with deletions had the classic form of the disease but it was not possible to predict the phenotype from the missense mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
459
pubmed:dateRevised
2009-7-23
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Fabry disease: 20 novel GLA mutations in 35 families.
pubmed:affiliation
Biochemistry, Endocrinology and Metabolism and Clinical and Molecular Genetics Units, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford Street, London WC1N 1EH, UK.
pubmed:publicationType
Journal Article