PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis-Reference-Cited by-同舟云学术

PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis

Published:2001-11 Issue:3 Volume:74 Page:353-361
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Mirisola Mario G.,Cali Francesco,Gloria Angelo,Schinocca Pietro,D'Amato Monica,Cassara Georgia,Leo Giacomo De,Palillo Letizia,Meli Concetta,Romano Valentino

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

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4. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: Implications for diagnosis of hyperphenylalaninemia in Southern Europe;Guldberg;Hum Mol Genet,1993

5. Non Isotopic detection of single strand conformation polymorpysm (PCR-SSCP): A rapid sensitive techniquein diagnosis of phenylketonuria;Dockorn-Dworniczak;Nucleic Acids Res,1991

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2. Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review;Metabolic Brain Disease;2021-02-24

3. The spectrum of mutations in the PAH gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic;Russian Journal of Genetics;2017-07

4. Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia);Russian Journal of Genetics;2016-12

5. Phenylketonuria: translating research into novel therapies;TRANSL PEDIATR;2014