Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Autor: Vahidnezhad, Hassan, Youssefian, Leila, Saeidian, Amir Hossein, Touati, Andrew, Pajouhanfar, Sara, Baghdadi, Taghi, Shadmehri, Azam Ahmadi, Giunta, Cecilia, Kraenzlin, Marius, Syx, Delfien, Malfait, Fransiska, Has, Cristina, Lwin, Su M., Karamzadeh, Razieh, Liu, Lu, Guy, Alyson, Hamid, Mohammad, Kariminejad, Ariana, Zeinali, Sirous, McGrath, John A., Uitto, Jouni
Zdroj: In Matrix Biology August 2019 81:91-106
Databáze: ScienceDirect