Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria-Reference-Cited by-同舟云学术

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Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria

Published:2017-06 Issue:2 Volume:4 Page:108-110
ISSN:2352-3042
Container-title:Genes & Diseases
language:en
Short-container-title:Genes & Diseases

Author:

Pampukha Volodymyr,Nechyporenko Maryna,Livshyts Ludmila

Funder

National Academy of Science of Ukraine

Publisher

Elsevier BV

Subject

Cell Biology,Genetics(clinical),Molecular Biology,Biochemistry

Reference10 articles.

1. Phenylketonuria;Blau;Lancet,2010

2. The PAH gene, phenylketonuria, and a paradigm shift;Scriver;Hum Mutat,2007

3. Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria;Wettstein;Eur J Hum Genet,2015

4. Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement;Kozak;Mol Genet Metab,2006

5. Single exon deletions in the PAH gene in Polish PKU-patients;Bik-Multanowski;Mol Genet Metab,2008

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Analysis of the PAH Gene Mutations in the Ukrainian Population: A Report from the West Ukrainian Region;Cytology and Genetics;2021-09

2. Mutation analysis of phenylketonuria in the North of Iran;Gene Reports;2021-09

3. The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review;Journal of Pediatrics Review;2021-04-01

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