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Literature DB >> 1601425

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.

Abstract

We have screened seven Spanish phenylketonuric (PKU) families for the most prevalent Mediterranean and Caucasian mutations, and have subsequently found mutations P281L and IVS10. We have analyzed these two mutations in 23 of our patients. The frequencies found correspond to those of Mediterranean countries, such as Italy. This is the first report of a mutation analysis in the Spanish PKU population.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1992 PMID： 1601425 DOI： 10.1007/bf00220555

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

12 in total

1. Phenylketonuria missense mutations in the Mediterranean.

Authors: Y Okano; T Wang; R C Eisensmith; R Longhi; E Riva; M Giovannini; R Cerone; C Romano; S L Woo
Journal: Genomics Date: 1991-01 Impact factor: 5.736

2. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Authors: J K Reichardt; S L Woo
Journal: Proc Natl Acad Sci U S A Date: 1991-04-01 Impact factor: 11.205

3. Molecular characterization of PKU allele prevalent in southern Europe and Ireland.

Authors: M Dasovich; D Konecki; U Lichter-Konecki; R C Eisensmith; F Güttler; E Naughton; C Mullins; M Giovannini; E Riva; S L Woo
Journal: Somat Cell Mol Genet Date: 1991-05

4. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

Authors: A G DiLella; J Marvit; A S Lidsky; F Güttler; S L Woo
Journal: Nature Date: 1986 Aug 28-Sep 3 Impact factor: 49.962

5. Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

Authors: S Lyonnet; C Caillaud; F Rey; M Berthelon; J Frézal; J Rey; A Munnich
Journal: Am J Hum Genet Date: 1989-04 Impact factor: 11.025

6. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

Authors: A G DiLella; J Marvit; K Brayton; S L Woo
Journal: Nature Date: 1987 May 28-Jun 3 Impact factor: 49.962

Review 7. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

Authors: F Güttler
Journal: Acta Paediatr Scand Suppl Date: 1980

8. Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.

Authors: Morteza Bagheri; Isa Abdi Rad; Nima Hosseini Jazani; Rasoul Zarrin; Ahad Ghazavi
Journal: Iran J Basic Med Sci Date: 2015-07 Impact factor: 2.699

8 in total

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.

1. Phenylketonuria missense mutations in the Mediterranean.

2. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

3. Molecular characterization of PKU allele prevalent in southern Europe and Ireland.

4. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

5. Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

6. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

Review 7. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

8. Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.

9. Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

10. Two mutations within the coding sequence of the phenylalanine hydroxylase gene.

1. Screening of three Mediterranean phenylketonuria mutations in Tunisian families.

2. Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

3. Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

4. Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

5. Multiple origins for phenylketonuria in Europe.

6. Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.

7. Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.

8. Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.