A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts

  • Andrea Del Fattore
  • , Rachele Fornari
  • , Liesbeth Van Wesenbeeck
  • , Fenna de Freitas
  • , Jean-Pierre Timmermans
  • , Barbara Peruzzi
  • , Alfredo Cappariello
  • , Nadia Rucci
  • , Giovanni Spera
  • , Miep H Helfrich
  • , Wim Van Hul
  • , Silvia Migliaccio
  • , Anna Teti

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Immunology and Microbiology

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology