Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

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Bibliographic Details
Title: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Authors: Morrone, A.1,2, Tylee, K.L.3, Al-Sayed, M.4, Brusius-Facchin, A.C.5, Caciotti, A.1, Church, H.J.3, Coll, M.J.6, Davidson, K.7, Fietz, M.J.8, Gort, L.6, Hegde, M.9, Kubaski, F.5, Lacerda, L.10, Laranjeira, F.10, Leistner-Segal, S.5, Mooney, S.11, Pajares, S.6, Pollard, L.12, Ribeiro, I.10, Wang, R.Y.13
Source: Molecular Genetics & Metabolism. Jun2014, Vol. 112 Issue 2, p160-170. 11p.
Database: Academic Search Ultimate
Description
ISSN:10967192
DOI:10.1016/j.ymgme.2014.03.004