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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1990-6-20
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pubmed:abstractText |
The codon 408 mutation (CGG----TGG, Arg----Trp) in exon 12 of the phenylalanine hydroxylase (PAH) gene occurs on haplotype 1 in French-Canadians; elsewhere this mutation (R408W) occurs on haplotype 2. A CpG dinucleotide is involved. The finding is compatible with a recurrent mutation, gene conversion, or a single recombination between haplotypes 2 and 1. A tabulation of 20 known mutations at the PAH locus reveals three instances of putative recurrent mutation.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-1967205,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-1967207,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2492100,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2564729,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2565077,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2574002,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2574153,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2606484,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2615649,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2773937,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2816939,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2833855,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2840952,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2883110,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2884570,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2893918,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2896155,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2896156,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2896157,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2903669,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-2904221,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-3018584,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-3071251,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-3338800,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-3375249,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-3393536,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971147-3615198
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
970-4
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:1971147-Alleles,
pubmed-meshheading:1971147-Arginine,
pubmed-meshheading:1971147-Canada,
pubmed-meshheading:1971147-Codon,
pubmed-meshheading:1971147-Exons,
pubmed-meshheading:1971147-France,
pubmed-meshheading:1971147-Gene Conversion,
pubmed-meshheading:1971147-Haplotypes,
pubmed-meshheading:1971147-Humans,
pubmed-meshheading:1971147-Introns,
pubmed-meshheading:1971147-Mutation,
pubmed-meshheading:1971147-Oligonucleotide Probes,
pubmed-meshheading:1971147-Phenotype,
pubmed-meshheading:1971147-Phenylalanine Hydroxylase,
pubmed-meshheading:1971147-Polymerase Chain Reaction,
pubmed-meshheading:1971147-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1971147-Recombination, Genetic,
pubmed-meshheading:1971147-Tryptophan
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pubmed:year |
1990
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pubmed:articleTitle |
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
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pubmed:affiliation |
McGill University-Montreal Children's Hospital Research Institute, Department of Biology, Quebec, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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