Document Detail


Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.
MedLine Citation:
PMID:  7901929     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Ozgüç; I Ozalp; T Coşkun; E Yilmaz; H Erdem; S Ayter
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  35     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    1993 Jan-Mar
Date Detail:
Created Date:  1993-12-03     Completed Date:  1993-12-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  TURKEY    
Other Details:
Languages:  eng     Pagination:  11-4     Citation Subset:  IM    
Affiliation:
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Child
Child, Preschool
Exons
Female
Gene Frequency / genetics*
Haplotypes / genetics
Humans
Infant
Infant, Newborn
Introns
Male
Mutation / genetics*
Phenylalanine Hydroxylase / genetics*
Phenylketonurias / genetics*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Turkey
Chemical
Reg. No./Substance:
EC 1.14.16.1/Phenylalanine Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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