Literature DB >> 1363838

A new PKU mutation associated with haplotype 12.

L R Desviat1, B Pérez, M Ugarte.   

Abstract

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Year:  1992        PMID： 1363838     DOI： 10.1093/hmg/1.9.765

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  2 in total

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

Authors:  B Pérez; L R Desviat; M J García; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

2.  Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Authors:  L R Desviat; B Pérez; M Ugarte
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132
  2 in total

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