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Search results for: Recombinant Human Ubiquitin-Fold Modifier 1 RECOMBINANT & NATURAL PROTEINS

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#28931644   2017/09/20 To Up

founder mutation in the Roma population causes recessive variant of H-ABC.

To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for mutations.
Eline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar, Dana Dojčáková, Judy Liu, Adeline Vanderver, Julian Curiel, Claudia M Persoon, Daria Diodato, Lorenzo Pinelli, Nathalie L van der Meij, Barbara Plecko, Susan Blaser, Nicole I Wolf, Quinten Waisfisz, Truus E M Abbink, Marjo S van der Knaap,

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