Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics-Reference-Cited by-同舟云学术

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

Published:2010 Issue:2 Volume:42 Page:81
ISSN:1226-3613
Container-title:Experimental and Molecular Medicine
language:en
Short-container-title:Exp Mol Med

Author:

Calì Francesco¹,Ruggeri Giuseppa¹,Vinci Mirella¹²,Meli Concetta³,Carducci Carla⁴,Leuzzi Vincenzo⁵,Pozzessere Simone⁵,Schinocca Pietro¹,Ragalmuto Alda¹,Chiavetta Valeria¹,Miccichè Salvatore⁶,Romano Valentino¹²

Affiliation:

1. Laboratorio di Genetica Molecolare, Associazione Oasi Maria SS. (I.R.C.C.S.), Troina (EN), Italy.

2. Dipartimento di Oncologia Sperimentale e Applicazioni Cliniche, Università degli studi di Palermo, Palermo, Italy.

3. Centro Malattie Metaboliche e Congenite, Azienda Ospedaliera Universitaria, Policlinico di Catania, Catania, Italy.

4. Dipartimento di Medicina Sperimentale, Università La Sapienza, Roma, Italy.

5. Dipartimento di Scienze Neuropsichiatriche dell'età evolutiva, Università La Sapienza, Roma, Italy.

6. Dipartimento di Fisica e Tecnologie Relative, Università degli studi di Palermo, Palermo, Italy.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Biochemistry,Molecular Biology,Molecular Medicine,Biochemistry

Reference15 articles.

1. Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

2. Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin

3. Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

4. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis

5. Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

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2. Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil;Molecular Genetics & Genomic Medicine;2018-05-10

3. Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria;Genes & Diseases;2017-06

4. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform;European Journal of Medical Genetics;2017-02

5. First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population;Iranian Red Crescent Medical Journal;2016-01-01