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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites Ferrari, Serge Livio; Deutsch, Samuel; Choudhury, Urmila; Chevalley, Thierry; ... Antonarakis, Stylianos 2004
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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro Guipponi, Michel; Vuagniaux, Gregoire; Wattenhofer, Marie; Shibuya, Kazunori; ... Rossier, B. C. 2002
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001