Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

Por Blomqvist, Maria, Ahlberg, Karin, Lindgren, Julia, Ferdinandusse, Sacha, Asin-Cayuela, Jorge
Publicado no J Med Case Rep (2017)

γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1

Por Darin, Niklas, Leckström, Karin, Sikora, Per, Lindgren, Julia, Almén, Gabriella, Asin-Cayuela, Jorge
Publicado no Eur J Hum Genet (2018)