Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Titel:
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Auteur:
Sorte, Hanne Mørkrid, Lars Rødningen, Olaug Kulseth, Mari Ann Stray-Pedersen, Asbjørg Matthijs, Gert Race, Valerie Houge, Gunnar Fiskerstrand, Torunn Bjurulf, Bjørn Lyle, Robert Prescott, Trine