Results

eNauka >  Results >  Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
Title: Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
Authors: Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo Graovac, Maja ; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur;
Faqeih, Eissa Ali; García, Segarra Nuria; Geraghty, Michael T.; Jåtun, Bjørn Magne; Kalkan, Uçar Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van, Karnebeek Clara D.M.;
Issue Date: 2016
Publication: Molecular Genetics and Metabolism
ISSN: 1096-7192 Molecular Genetics and Metabolism Search Idenfier
Type: Article
Collation: vol. 119 br. 1-2 str. 44-49
DOI: 10.1016/j.ymgme.2016.07.008
WoS-ID: 000384631000007
Scopus-ID: 2-s2.0-84979740974
URI: https://enauka.gov.rs/handle/123456789/436328
Metadata source: Migrirano iz RIS podataka
M-category: 
21M21

14
SCOPUSTM
7
OpenCitations
10
WEB OF SCIENCETM
Altmetric
Dimensions
Unpaywall

Items in eNauka are protected by copyright, with all rights reserved, unless otherwise indicated.