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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