PMID: 11179012
Ringpfeil F, Nakano A, Uitto J, Pulkkinen LCompound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.
Am J Hum Genet. 2001 Mar;68(3):642-52. Epub 2001 Feb 9., [PubMed]