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Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
Conceição Pereira M, Loureiro JL, Pinto-Basto J, Brandão E, Margarida Lopes A, Neves G, Dias P, Geraldes R, Martins IP, Cruz VT, Kamsteeg EJ, Brunner HG, Coutinho P, Sequeiros J, Alonso I. Conceição Pereira M, et al. Genet Med. 2012 Jan;14(1):143-51. doi: 10.1038/gim.2011.7. Genet Med. 2012. PMID: 22237444 Free article.
Osteopathia striata with cranial sclerosis owing to WTX gene defect.
Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. Perdu B, et al. J Bone Miner Res. 2010 Jan;25(1):82-90. doi: 10.1359/jbmr.090707. J Bone Miner Res. 2010. PMID: 20209645 Free article.
38 results