Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.

Eszter KozákJonas W BartstraPim A de JongWillem P T M MaliKrisztina FülöpNatália TőkésiViola PomoziSara RisseeuwJeannette Ossewaarde-van NorelRedmer van LeeuwenAndrás VáradiWilko Spiering

Published in: Journal of clinical medicine (2023)

and disease severity. Our findings support the argument that predictions of pathogenicity made on the basis of mutations (or on the structure of the mutated protein) could be misleading.

Keyphrases

genome wide
biofilm formation
binding protein
gene expression
genome wide identification
transcription factor
cystic fibrosis
staphylococcus aureus
wild type