Article
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Human mutation - 1 Nov 2021
Zanetti Alessandra, D'Avanzo Francesca, AlSayed Moeenaldeen, Brusius-Facchin Ana Carolina, Chien Yin-Hsiu, Giugliani Roberto, Izzo Emanuela, Kasper David C, Lin Hsiang-Yu, Lin Shuan-Pei, Pollard Laura, Singh Akashdeep, Tonin Rodolfo, Wood Tim, Morrone Amelia, Tomanin Rosella
Abstract excerpt
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 summarized all published GALNS gene variants, thus updating the previous mutation review (published in 2014). In addition, new variants were communicated by seven reference laboratories in...
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