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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

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author: Jean-Pierre Timmermans  Barbara Peruzzi  Alfredo Cappariello  Wim Van Hul  Anna Teti  Nadia Rucci  Silvia Migliaccio  Miep H Helfrich  Andrea Del Fattore 

Publication date March 1, 2008
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