Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement-Reference-Cited by-同舟云学术

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement

Published:2006-12 Issue:4 Volume:89 Page:300-309
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Kozak Libor,Hrabincova Eva,Kintr Jaromir,Horky Ondrej,Zapletalova Petra,Blahakova Ivona,Mejstrik Pavel,Prochazkova Dagmar

Publisher

Elsevier BV

Subject

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

Reference30 articles.

1. PAHdb 2003: what a locus-specific knowledge base can do;Scriver;Hum. Mutat.,2003

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

3. Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts;Okano;Hum. Mol. Genet.,1994

4. RFLP discordance in a PKU family due to a deletion in the PAH gene;Bosco;Turk. J. Pediatr.,1996

5. Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India;Guldberg;J. Inherit. Metab. Dis.,1997

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