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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1997-4-29
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pubmed:abstractText |
Rare individuals (Bombay and para-Bombay phenotypes) fail to express the A, B and H antigens on erythrocyte membranes because of a lack in the H gene (FUT1)-encoded alpha(1,2)fucosyltransferase activity. In this study, we have found a para-Bombay individual (Bmh) who expressed B and H antigens in saliva but not on red blood cells. The FUT1 alleles of this person contained two single base changes (T460C and G1042A) in the coding region relative to the wild type allele. These substitutions may result in changes in two amino acid residues (Y154H and E348K).
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pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
0042-9007
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
72
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
31-5
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pubmed:dateRevised |
2005-1-18
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pubmed:meshHeading |
pubmed-meshheading:9031498-ABO Blood-Group System,
pubmed-meshheading:9031498-Alleles,
pubmed-meshheading:9031498-Enzyme Activation,
pubmed-meshheading:9031498-Fucosyltransferases,
pubmed-meshheading:9031498-Humans,
pubmed-meshheading:9031498-Mutation,
pubmed-meshheading:9031498-Phenotype,
pubmed-meshheading:9031498-Sequence Analysis, DNA
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pubmed:year |
1997
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pubmed:articleTitle |
Two missense mutations of H type alpha(1,2)fucosyltransferase gene (FUT1) responsible for para-Bombay phenotype.
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pubmed:affiliation |
Department of Legal Medicine, Kurume University School of Medicine, Fukuoka, Japan.
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pubmed:publicationType |
Journal Article,
Clinical Trial,
Randomized Controlled Trial
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