Literature DB >> 7807952

Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA.

R Kaul1, R Matalon, R Allen, R O Fisch, K Michals, A Petrosky, D Sullivan.   

Abstract

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Year:  1994        PMID： 7807952     DOI： 10.1007/bf00711829

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


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  8 in total

1.  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

2.  Molecular basis of phenotypic heterogeneity in phenylketonuria.

Authors:  Y Okano; R C Eisensmith; F Güttler; U Lichter-Konecki; D S Konecki; F K Trefz; M Dasovich; T Wang; K Henriksen; H Lou
Journal:  N Engl J Med       Date:  1991-05-02       Impact factor: 91.245

3.  Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

Authors:  A G DiLella; S C Kwok; F D Ledley; J Marvit; S L Woo
Journal:  Biochemistry       Date:  1986-02-25       Impact factor: 3.162

4.  Comparison of genotype and intellectual phenotype in untreated PKU patients.

Authors:  S J Ramus; S M Forrest; D B Pitt; J A Saleeba; R G Cotton
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

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

Review 6.  Phenylketonuria: screening, treatment and maternal PKU.

Authors:  R Matalon; K Michals
Journal:  Clin Biochem       Date:  1991-08       Impact factor: 3.281

7.  Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

Authors:  A S Lidsky; M L Law; H G Morse; F T Kao; M Rabin; F H Ruddle; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1985-09       Impact factor: 11.205

Review 8.  Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

Authors:  R C Eisensmith; S L Woo
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878
  8 in total
  2 in total

1.  Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect.

Authors:  Kevin R Thornton; Andrew J Foran; Anthony D Long
Journal:  PLoS Genet       Date:  2013-02-21       Impact factor: 5.917

2.  Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Authors:  Ting Wang; Jun Ma; Qin Zhang; Ang Gao; Qi Wang; Hong Li; Jingjing Xiang; Benjing Wang
Journal:  Front Genet       Date:  2019-10-29       Impact factor: 4.599
  2 in total

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