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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Crossref DOI link: https://doi.org/10.1007/s00415-014-7549-7

Published Online: 2014-10-30

Published Print: 2015-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Barone, Rita

Carrozzi, M.

Parini, R.

Battini, R.

Martinelli, D.

Elia, M.

Spada, M.

Lilliu, F.

Ciana, G.

Burlina, A.

Leuzzi, V.

Leoni, M.

Sturiale, L.

Matthijs, G.

Jaeken, J.

Di Rocco, M.

Garozzo, D.

Fiumara, A.
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