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Journal of Hepatology|August 31, 2010
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutationArmin Finkenstedt, Elisabeth Wolf, Elmar Höfner, et al.Human Mutation|September 8, 2016
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint LaxityJulia Vodopiutz, Shuji Mizumoto, Ekkehart Lausch, et al.American Journal of Medical Genetics. Part A|September 17, 2015
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutationsAndreas R Janecke, Ben Li, Manfred Boehm, et al.Journal of Neurology|September 6, 2011
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer, Slave Trajanoski, Lea Papić, et al.JCI Insight|July 21, 2017
Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutationsGeorg F Vogel, Jorik M van Rijn, Iris M Krainer, et al.Journal of Hepatology|January 28, 2003
The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosisThomas Müller, Bart van de Sluis, Alexandra Zhernakova, et al.Clinical Journal of the American Society of Nephrology : CJASN|December 18, 2012
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndromeJohannes Hofer, Andreas R Janecke, L B Zimmerhackl, et al.Human Molecular Genetics|November 17, 2018
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptaseLasse Holt-Danborg, Julia Vodopiutz, Annika W Nonboe, et al.The American Journal of Pathology|April 26, 2011
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and functionRobert Gruber, Peter M Elias, Debra Crumrine, et al.Traffic (Copenhagen, Denmark)|April 14, 2017
Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion diseaseGeorg F Vogel, Andreas R Janecke, Iris M Krainer, et al.Pageof 13