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Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily
Author(s) -
Romano V,
Call F,
Guldberg P,
Güttler F,
Indelicato A,
Bosco P,
Ceratto N
Publication year - 1994
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1994.tb13446.x
Subject(s) - haplotype , genetics , minisatellite , locus (genetics) , allele , gene , biology , population , medicine , microsatellite , environmental health
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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