Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to...

Molecular Genetics and Metabolism 2016 / 09 Vol. 119; Iss. 1-2

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

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 A
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Volume:
119
Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2016.07.008
Date:
September, 2016
File:
PDF, 297 KB
english, 2016
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