A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population-Reference-Cited by-同舟云学术

A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population

Published:2016-01 Issue:1 Volume:576 Page:182-188
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Gemperle-Britschgi Corinne,Iorgulescu Daniela,Mager Monica Alina,Anton-Paduraru Dana,Vulturar Romana,Thöny Beat

Funder

Romanian National Authority for Scientific Research

CNCS–UEFISCDI

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference29 articles.

1. Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria;Abadie;Hum. Mol. Genet.,1993

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

3. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots;Arai;Pediatrics,1982

4. Disorders of Phenylalanine and Tetrahydrobiopterin metabolism. Physicans's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;Blau,2014

5. Phenylketonuria;Blau;Lancet,2010

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