Literature DB >> 7807962

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

B Pérez1, L R Desviat, M J García, M Ugarte.   

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Year:  1994        PMID： 7807962     DOI： 10.1007/bf00711839

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


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  4 in total

1.  A new PKU mutation associated with haplotype 12.

Authors:  L R Desviat; B Pérez; M Ugarte
Journal:  Hum Mol Genet       Date:  1992-12       Impact factor: 6.150

2.  Molecular characterization of PKU allele prevalent in southern Europe and Ireland.

Authors:  M Dasovich; D Konecki; U Lichter-Konecki; R C Eisensmith; F Güttler; E Naughton; C Mullins; M Giovannini; E Riva; S L Woo
Journal:  Somat Cell Mol Genet       Date:  1991-05

3.  In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.

Authors:  S W John; C R Scriver; R Laframboise; R Rozen
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

4.  Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.

Authors:  R C Eisensmith; S L Woo
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025
  4 in total
  3 in total

1.  Screening of three Mediterranean phenylketonuria mutations in Tunisian families.

Authors:  Sameh Khemir; Hajer Siala; Sameh Hadj Taieb; Wafa Cherif; Hatem Azzouz; Rym Kéfi; Sonia Abdelhak; Naziha Khouja; Neji Tebib; Taieb Massaoud; Marie Françoise Ben Dridi; Naziha Kaabachi
Journal:  J Genet       Date:  2012       Impact factor: 1.166

2.  In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings.

Authors:  E Treacy; J J Pitt; K Seller; G N Thompson; S Ramus; R G Cotton
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025
  3 in total

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