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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

  • Hassan Vahidnezhad
  • , Leila Youssefian
  • , Amir Hossein Saeidian
  • , Andrew Touati
  • , Sara Pajouhanfar
  • , Taghi Baghdadi
  • , Azam Ahmadi Shadmehri
  • , Cecilia Giunta
  • , Marius Kraenzlin
  • , Delfien Syx
  • , Fransiska Malfait
  • , Cristina Has
  • , Su M. Lwin
  • , Razieh Karamzadeh
  • , Lu Liu
  • , Alyson Guy
  • , Mohammad Hamid
  • , Ariana Kariminejad
  • , Sirous Zeinali
  • , John A. McGrath
  • Jouni Uitto

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Biochemistry, Genetics and Molecular Biology