PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population-Reference-Cited by-同舟云学术

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

Published:1996-01 Issue:1 Volume:19 Page:15-24
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Romano V.,Guldberg P.,Güttler F.,Meli C.,Mollica F.,Pavone L.,Giovannini M.,Riva E.,Biasucci G.,Luotti D.,Palillo L.,Calí F.,Ceratto N.,Anello G.,Bosco P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799343

Reference27 articles.

1. Abadie V, Lyonnet S, Maurin N, et al (1989) CpG dinucleotides are mutation hot spots in phenylketonuria.Genomics 5: 936–939.

2. Abadie V, Lyonnet S, Melle D, et al (1993) Molecular basis of phenylketonuria in France.Dev Brain Dysfunct 6: 120–126.

3. Avigad S, Kleiman S, Weinstein M, et al (1991) Compound heterozygosity in non-phenylketonuria hyperphenylalaninemia: the contribution of mutations for classical phenylketonuria.Am J Hum Genet 49: 393–399.

4. Brunet O, Lezine I (1967) Scala di sviluppo psicomotorio della prima infanzia. In: Ponzo E. Firenze: Organizzazioni Speciali.

5. Coskun T, Ozguc M, Tokatly A, et al (1993) Phenylketonuria in Turkey: epidemiological, clinical and genetic aspects.Dev Brain Dysfunct 6: 134–140.

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