Literature DB >> 1977954

Haplotype distribution and molecular defects of PKU in Italy.

I Dianzani1, C Camaschella, G Saglio, G B Ferrero, G Romeo, M Devoto, C Romano, R Cerone, M Giovannini, E Riva.   

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Year:  1990        PMID： 1977954     DOI： 10.1007/bf01799377

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

Review 1.  Molecular basis and population genetics of phenylketonuria.

Authors:  S L Woo
Journal:  Biochemistry       Date:  1989-01-10       Impact factor: 3.162

2.  Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population.

Authors:  U Lichter-Konecki; M Schlotter; D S Konecki; S Labeit; S L Woo; F K Trefz
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

3.  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

4.  DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.

Authors:  U Lichter-Konecki; M Schlotter; C Yaylak; M Ozgüç; T Coskun; I Ozalp; U Wendel; U Batzler; F K Trefz; D Konecki
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

5.  RFLPs of the phenylalanine hydroxylase gene in the Italian population.

Authors:  I Dianzani; L Farinasso; P Fortina; C Camaschella; R Ponzone; H H Dahl; R G Cotton; A Ponzone
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

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

7.  Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Authors:  R Chakraborty; A S Lidsky; S P Daiger; F Güttler; S Sullivan; A G Dilella; S L Woo
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132

8.  Phenylketonuria: distribution of DNA diagnostic patterns in German families.

Authors:  C Aulehla-Scholz; M Vorgerd; E Sautter; D Leupold; R Mahlmann; K Ullrich; K Olek; J Horst
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

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

Authors:  A G DiLella; W M Huang; S L Woo
Journal:  Lancet       Date:  1988-03-05       Impact factor: 79.321
  9 in total
  2 in total

1.  Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

Authors:  C Caillaud; L Vilarinho; A Vilarinho; F Rey; M Berthelon; R Santos; S Lyonnet; M L Briard; R V Osorio; J Rey
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

Review 2.  The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Authors:  D S Konecki; U Lichter-Konecki
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132
  2 in total

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