Listar Ciencias Biologicas por autor "Wood, Tim J."
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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variants
Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, M.; Facchin, Ana Carolina Brusius; Chien, Yin-Hsiu; Giugliani, Roberto; Izzo, Emanuela; Kasper David C.; Lin, Hsiang-Yu; Lin, Shuan-Pei; Pollard, Laura Malinda; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim J.; Marrone, Amelia; Tomanin, Rosella (2021) [Artículo de periódico]Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly ...