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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1993-12-3
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pubmed:abstractText |
The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript. This mutation is observed in association with haplotype 6 of phenylketonuria chromosomes. Since in Turkey, haplotype 6 is observed in 40 percent of mutant phenylketonuria alleles, the aim of this study was to establish the incidence of this particular mutation. Forty-four classical phenylketonuria patients were studied and the frequency of the intron 10 splicing mutation was determined to be 31 percent.
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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:issn |
0041-4301
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
35
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
11-4
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7901929-Alleles,
pubmed-meshheading:7901929-Child,
pubmed-meshheading:7901929-Child, Preschool,
pubmed-meshheading:7901929-Exons,
pubmed-meshheading:7901929-Female,
pubmed-meshheading:7901929-Gene Frequency,
pubmed-meshheading:7901929-Haplotypes,
pubmed-meshheading:7901929-Humans,
pubmed-meshheading:7901929-Infant,
pubmed-meshheading:7901929-Infant, Newborn,
pubmed-meshheading:7901929-Introns,
pubmed-meshheading:7901929-Male,
pubmed-meshheading:7901929-Mutation,
pubmed-meshheading:7901929-Phenylalanine Hydroxylase,
pubmed-meshheading:7901929-Phenylketonurias,
pubmed-meshheading:7901929-Polymerase Chain Reaction,
pubmed-meshheading:7901929-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:7901929-Turkey
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pubmed:articleTitle |
Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.
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pubmed:affiliation |
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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