Publications
Find an abstract and a link to most of the publications produced by Nordic Bioscience
Find an abstract and a link to most of the publications produced by Nordic Bioscience
Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by nonfunctional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to develop a clinically...
July 20, 2017
Journal:
Hum Gene Ther
Author:
Moscatelli I, Löfvall H, Rothe M, Montano C, Kertész Z, Sirin M, Schulz AS, Schambach A, Henriksen K, Richter J, Thudium CS
Infantile malignant osteopetrosis (IMO) is a rare, recessive disorder characterized by increased bone mass caused by dysfunctional osteoclasts. The disease is most often caused by mutations in the TCIRG1 gene encoding a subunit of the V-ATPase involved in the osteoclasts capacity to resorb bone. We ...
August 19, 2016
Journal:
Calcif Tissue Int
Author:
Thudium CS, Moscatelli I, Löfvall H, Kertész Z, Montano C, Bjurström CF, Karsdal MA, Schulz AS, Richter J, Henriksen K
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