Literature DB >> 7766953

Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily.

V Romano1, F Calì, P Guldberg, F Güttler, A Indelicato, P Bosco, N Ceratto.   

Abstract

In this study we report previously undescribed associations between mutations, haplotypes and a minisatellite polymorphism (Hind III VNTR) of the PAH gene in the Sicilian population. Analysis of the association between mutations and linked polymorphisms between Sicilians and other Mediterranean populations may be a useful tool to study the time-space origin of mutant PAH genes in Southern Europe.

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Year:  1994        PMID: 7766953     DOI: 10.1111/j.1651-2227.1994.tb13446.x

Source DB:  PubMed          Journal:  Acta Paediatr Suppl        ISSN: 0803-5326


  2 in total

1.  Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.

Authors:  Morteza Bagheri; Isa Abdi Rad; Nima Hosseini Jazani; Rasoul Zarrin; Ahad Ghazavi
Journal:  Maedica (Buchar)       Date:  2014-09

2.  Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

Authors:  Polina Gundorova; Rena A Zinchenko; Irina A Kuznetsova; Elena A Bliznetz; Anna A Stepanova; Aleksander V Polyakov
Journal:  PLoS One       Date:  2018-08-01       Impact factor: 3.240

  2 in total

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