Literature DB >> 8139930

'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene.

P Guldberg1, F Güttler.   

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Year:  1994        PMID： 8139930      PMCID： PMC307896          DOI： 10.1093/nar/22.5.880

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  7 in total

1.  Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

Authors:  V C Sheffield; D R Cox; L S Lerman; R M Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

2.  Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis.

Authors:  L S Lerman; K Silverstein
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

3.  Detection and localization of single base changes by denaturing gradient gel electrophoresis.

Authors:  R M Myers; T Maniatis; L S Lerman
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

4.  Detection of single base substitutions in total genomic DNA.

Authors:  R M Myers; N Lumelsky; L S Lerman; T Maniatis
Journal:  Nature       Date:  1985 Feb 7-13       Impact factor: 49.962

5.  Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

Authors:  P Guldberg; K F Henriksen; F Güttler
Journal:  Genomics       Date:  1993-07       Impact factor: 5.736

6.  Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Authors:  P Guldberg; V Romano; N Ceratto; P Bosco; M Ciuna; A Indelicato; F Mollica; C Meli; M Giovannini; E Riva
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150

Review 7.  Current methods of mutation detection.

Authors:  R G Cotton
Journal:  Mutat Res       Date:  1993-01       Impact factor: 2.433
  7 in total
  15 in total

1.  Single nucleotide polymorphism seeking long term association with complex disease.

Authors:  Brian W Kirk; Matthew Feinsod; Reyna Favis; Richard M Kliman; Francis Barany
Journal:  Nucleic Acids Res       Date:  2002-08-01       Impact factor: 16.971

2.  Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Authors:  P Guldberg; H L Levy; W B Hanley; R Koch; R Matalon; B M Rouse; F Trefz; F de la Cruz; K F Henriksen; F Güttler
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes.

Authors:  Y Michikawa; G Hofhaus; L S Lerman; G Attardi
Journal:  Nucleic Acids Res       Date:  1997-06-15       Impact factor: 16.971

4.  Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

Authors:  Maja Djordjevic; Kristel Klaassen; Adrijan Sarajlija; Natasa Tosic; Branka Zukic; Bozica Kecman; Milena Ugrin; Vesna Spasovski; Sonja Pavlovic; Maja Stojiljkovic
Journal:  JIMD Rep       Date:  2012-10-13

5.  Phenylketonuria in adulthood: a collaborative study.

Authors:  R Koch; B Burton; G Hoganson; R Peterson; W Rhead; B Rouse; R Scott; J Wolff; A M Stern; F Guttler; M Nelson; F de la Cruz; J Coldwell; R Erbe; M T Geraghty; C Shear; J Thomas; C Azen
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

6.  Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.

Authors:  P Guldberg; H L Levy; K F Henriksen; F Guttler
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

7.  Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

Authors:  B Pérez; L R Desviat; M Ugarte
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

8.  Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.

Authors:  J Zschocke; E Quak; A Knauer; B Fritz; M Aslan; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

Review 9.  The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

Authors:  F Güttler; P Guldberg
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

10.  Quality of diagnostic mutation analyses for phenylketonuria.

Authors:  J Zschocke; C Aulehla-Scholz; S Patton
Journal:  J Inherit Metab Dis       Date:  2008-11-21       Impact factor: 4.982
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