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Journal article
MAN1B1 deficiency: an unexpected CDG-II.
Rymen, Daisy
Peanne, Romain
Millón, María B
Race, Valérie
Sturiale, Luisa
Garozzo, Domenico
Mills, Philippa
Clayton, Peter
Asteggiano, Carla G
Quelhas, Dulce
Cansu, Ali
Martins, Esmeralda
Nassogne, Marie-Cécile
[UCL]
Gonçalves-Rocha, Miguel
Topaloglu, Haluk
Jaeken, Jaak
Foulquier, François
Matthijs, Gert
(2013)
PLoS Genetics — Vol. 9, no.12, p. e1003989 (2013)