Linked Life Data

8645240

Source:http://linkedlifedata.com/resource/pubmed/id/8645240

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1996-7-15
pubmed:databankReference
pubmed:abstractText
A new point mutation was found in the coding sequence of the secretor FUT2 gene. This missense mutation with an A-->T substitution at nucleotide 385 resulted in an amino acid change of Ile129 to Phe129. This mutation showed a clear genetic trait in an Indonesian pedigree and, when appearing in a homozygous form, it was associated with the red cell Le(a+b+) and salivary partial-secretor phenotype. This result suggests that the molecular basis for the Le(a+b+) and associated partial-secretor phenotype is caused by a partially inactivating amino acid change in the alpha(1,2)fucosyltransferase coded for by this new FUT2 allele.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0006-291X
pubmed:author
pubmed:issnType
Print
pubmed:day
27
pubmed:volume
219
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
675-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Homozygous expression of a missense mutation at nucleotide 385 in the FUT2 gene associates with the Le(a+b+) partial-secretor phenotype in an Indonesian family.
pubmed:affiliation
Department of Clinical Chemistry and Transfusion Medicine, Göteborg University, Sweden.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't