Associated Papers
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Wagenknecht JB et al.
Biorxiv : the Preprint Server for Biology, 2025
40667354 (PubMed )
Supplement: media-1.docx
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
28891970 (PubMed )
Supplement: ijms-18-01941-s001.xlsx › Sheet1
Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver.
Le Saux O et al.
Plos One, 2011
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
Chassaing N et al.
Journal of Medical Genetics, 2005
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X et al.
European Journal of Human Genetics : Ejhg, 2003
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O et al.
American Journal of Human Genetics, 2001
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