Literature DB >> 8445621

Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients.

T Ivaschenko1, V S Baranov.   

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Year:  1993        PMID： 8445621      PMCID： PMC1016274          DOI： 10.1136/jmg.30.2.153

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R.

Authors:  V S Baranov; V N Gorbunova; T E Ivaschenko; N S Osinovskaya; T K Kascheeva; V M Lebedev; A V Mikhailov; V G Vakharlovsky; T V Kuznetzova
Journal:  Prenat Diagn       Date:  1992-07       Impact factor: 3.050

Review 2.  Restriction enzymes and their isoschizomers.

Authors:  R J Roberts; D Macelis
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

3.  Polymerase chain reaction amplification from dried blood spots on Guthrie cards.

Authors:  E I Schwartz; S E Khalchitsky; R C Eisensmith; S L Woo
Journal:  Lancet       Date:  1990-09-08       Impact factor: 79.321

4.  Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.

Authors:  S C Kwok; F D Ledley; A G DiLella; K J Robson; S L Woo
Journal:  Biochemistry       Date:  1985-01-29       Impact factor: 3.162

5.  Rapid diagnosis of the phenylketonuria haplotype 2 mutation by DNA amplification and MnlI digestion.

Authors:  H G Eiken; E Odland; K Hordnes; H Boman; J Apold
Journal:  Clin Chem       Date:  1990-05       Impact factor: 8.327

6.  Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.

Authors:  H G Eiken; E Odland; H Boman; L Skjelkvåle; L F Engebretsen; J Apold
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971

7.  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
  7 in total
  1 in total

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

Authors:  R C Eisensmith; A A Goltsov; C O'Neill; L A Tyfield; E I Schwartz; A I Kuzmin; S S Baranovskaya; G L Tsukerman; E Treacy; C R Scriver
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  1 in total

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