Associated Papers
Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations.
Arányi T et al.
Frontiers in Genetics, 2013
Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver.
Le Saux O et al.
Plos One, 2011
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O et al.
American Journal of Human Genetics, 2001
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O et al.
Nature Genetics, 2000
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