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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. [1]

TitoloA nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Publication TypeJournal Article
AuthorsBarone, R [2], Carrozzi, M [3], Parini, R [4], Battini, R [5], Martinelli, D [6], Elia, M [7], Spada, M [8], Lilliu, F [9], Ciana, G [10], Burlina, A [11], Leuzzi, V [12], Leoni, M [13], Sturiale, L [14], Matthijs, G [15], Jaeken, J [16], Di Rocco, M [17], Garozzo, D [18], Fiumara, A [19]
PubMed ID25355454 [20]

Source URL: https://www.burlo.trieste.it/ricerca/pubblicazioni/nationwide-survey-pmm2-cdg-italy-high-frequency-mild-neurological-variant-associated-l32r-mutation#comment-0

Collegamenti
[1] https://www.burlo.trieste.it/ricerca/pubblicazioni/nationwide-survey-pmm2-cdg-italy-high-frequency-mild-neurological-variant-associated-l32r-mutation
[2] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3791
[3] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3792
[4] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3793
[5] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3794
[6] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3795
[7] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3796
[8] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3797
[9] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3798
[10] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3799
[11] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3800
[12] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3801
[13] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3802
[14] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3803
[15] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3804
[16] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3805
[17] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3806
[18] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3807
[19] https://www.burlo.trieste.it/ricerca/biblio?f%5Bauthor%5D=3808
[20] http://www.ncbi.nlm.nih.gov/pubmed/25355454?dopt=Abstract