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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. [electronic resource] by
- 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
Producer: 20171207
In:
Molecular genetics and metabolism vol. 119
Availability: No items available.
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