Literature DB >> 2900424

Guthrie cards for detection of point mutations in phenylketonuria.

S Lyonnet, C Caillaud, F Rey, M Berthelon, J Frezal, J Rey, A Munnich.   

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Year:  1988        PMID： 2900424     DOI： 10.1016/s0140-6736(88)90148-1

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


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  9 in total

Review 1.  Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.

Authors:  R G Cotton
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

Authors:  F Rey; M Berthelon; C Caillaud; S Lyonnet; V Abadie; F Blandin-Savoja; J Feingold; J M Saudubray; J Frézal; A Munnich
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

Review 3.  Polymerase chain reaction.

Authors:  H A Erlich
Journal:  J Clin Immunol       Date:  1989-11       Impact factor: 8.317

Review 4.  Detection of single base changes in nucleic acids.

Authors:  R G Cotton
Journal:  Biochem J       Date:  1989-10-01       Impact factor: 3.857

5.  Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening.

Authors:  D C Jinks; M Minter; D A Tarver; M Vanderford; J F Hejtmancik; E R McCabe
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

6.  Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus.

Authors:  M Berthelon; C Caillaud; F Rey; P Labrune; D Melle; J Feingold; J Frézal; M L Briard; J P Farriaux; P Guibaud
Journal:  Hum Genet       Date:  1991-02       Impact factor: 4.132

7.  Direct fluorescence analysis of genetic polymorphisms by hybridization with oligonucleotide arrays on glass supports.

Authors:  Z Guo; R A Guilfoyle; A J Thiel; R Wang; L M Smith
Journal:  Nucleic Acids Res       Date:  1994-12-11       Impact factor: 16.971

8.  A consortium approach to molecular genetic services. Scottish Molecular Genetics Consortium.

Authors:  D J Brock
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

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

Authors:  J Traeger-Synodinos; E Kanavakis; M Kalogerakou; K Soulpi; S Missiou-Tsangaraki; C Kattamis
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132
  9 in total

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