Literature DB >> 1672963

Phenylketonuria mutation in southern Europeans.

L Kalaydjieva, B Dworniczak, C Aulehla-Scholz, M Devoto, G Romeo, M Stuhrmann, J Horst.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 1672963     DOI： 10.1016/0140-6736(91)92584-o

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  8 in total

1.  Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

Authors:  I Rivera; P Leandro; U Lichter-Konecki; I Tavares de Almeida; M C Lechner
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

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

Authors:  B Pérez; L R Desviat; M Die; M Ugarte
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

3.  Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.

Authors:  A A Goltsov; R C Eisensmith; D S Konecki; U Lichter-Konecki; S L Woo
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

4.  Haplotype distribution and mutations at the PAH locus in Croatia.

Authors:  I Barić; D Mardesić; G Gjurić; V Sarnavka; B Göbel-Schreiner; U Lichter-Konecki; D S Konecki; F K Trefz
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

5.  Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

Authors:  I Dianzani; C Camaschella; G Saglio; G B Ferrero; S Ramus; A Ponzone; R G Cotton
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

6.  Mutation analysis in Turkish phenylketonuria patients.

Authors:  M Ozgüç; I Ozalp; T Coşkun; E Yilmaz; H Erdem; S Ayter
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

7.  Multiple origins for phenylketonuria in Europe.

Authors:  R C Eisensmith; Y Okano; M Dasovich; T Wang; F Güttler; H Lou; P Guldberg; U Lichter-Konecki; D S Konecki; E Svensson
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

8.  RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.

Authors:  H Meijer; R J Jongbloed; M Hekking; L J Spaapen; J P Geraedts
Journal:  Hum Genet       Date:  1993-12       Impact factor: 4.132
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.