An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II von Tappino, B., Regis, S., Corsolini, F., Filocamo, M.

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Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity von Coutinho, MF, Encarnação, M, Gomes, R, da Silva Santos, L, Martins, S, Sirois-Gagnon, D, Bargal, R, Filocamo, M, Raas-Rothschild, A, Tappino, B, Laprise, C, Cury, GK, Schwartz, IV, Artigalás, O, Prata, MJ, Alves, S

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