Plomp, A.

mutation abcc 6 patient foxc 1 deletion pseudoxanthoma elasticum anomaly l 1 element protein mother pseudoxanthoma copy number changes l 1chm number retrotransposition identi elasticum pitx 2 genet study analysis sequence change pitx 2 mutations identi fied l 1 retrotransposition element abcc 6−/− mice l 1 insertion region novel mouse tissue glaucoma pitx 2 deletions fication abcc 6 gene l 1 elements genetic chromosome umbilical anomaly insertion variant genomic father department syndrome identi fication hypoplasia domain disease abcc 6 expression 6−/− foxc 1 deletions netherland bergen chm gene expression -30 university pxe patients genome kidney pathology embryotoxon intron axenfeld-rieger syndrome maxillary function table hum mol genet transport umbilical l 1chm insertion jong pt rieger syndrome liver genomic dna allele segment