Copy number variations of the ATP-binding cassette transporter <it>ABCC6</it> gene and its pseudogenes

Por Kringen Marianne K, Stormo Camilla, Grimholt Runa M, Berg Jens P, Piehler Armin P
Publicado em 2012-08-01

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

Por Yvonne eNitschke, Frank eRutsch
Publicado em 2012-12-01

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study

Por Saku Pelttari, Suvi Väärämäki, Olivier Vanakker, Shana Verschuere, Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Pörsti, Pasi I. Nevalainen
Publicado em 2022-05-01

Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues

Por Bettina Ibold, Isabel Faust, Janina Tiemann, Theo G. M. F. Gorgels, Arthur A. B. Bergen, Cornelius Knabbe, Doris Hendig
Publicado em 2019-01-01

Elastic Pseudoxanthoma in Childhood

Por Nikolay N. Murashkin, Eleonora I. Pilguy
Publicado em 2016-12-01

ABC Transporters in Human Diseases

Publicado em 2022