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

V. Romano; F. Calì; P. Guldberg; F. Güttler; A. Indelicato; P. Bosco; N. Ceratto

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

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

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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.

Original language	English
Pages (from-to)	39-40
Number of pages	2
Journal	Acta Paediatrica, International Journal of Paediatrics, Supplement
Volume	407
Publication status	Published - Dec 1994

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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

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.",

author = "V. Romano and F. Cal{\`i} and P. Guldberg and F. G{\"u}ttler and A. Indelicato and P. Bosco and N. Ceratto",

year = "1994",

month = dec,

language = "English",

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T1 - Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily.

AU - Romano, V.

AU - Calì, F.

AU - Guldberg, P.

AU - Güttler, F.

AU - Indelicato, A.

AU - Bosco, P.

AU - Ceratto, N.

PY - 1994/12

Y1 - 1994/12

N2 - 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.

AB - 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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VL - 407

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JO - Acta Paediatrica, International Journal of Paediatrics, Supplement

JF - Acta Paediatrica, International Journal of Paediatrics, Supplement

SN - 0803-5326

ER -

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

Abstract

ASJC Scopus subject areas

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