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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

โœ Scribed by Morrone, A.; Tylee, K.L.; Al-Sayed, M.; Brusius-Facchin, A.C.; Caciotti, A.; Church, H.J.; Coll, M.J.; Davidson, K.; Fietz, M.J.; Gort, L.; Hegde, M.; Kubaski, F.; Lacerda, L.; Laranjeira, F.; Leistner-Segal, S.; Mooney, S.; Pajares, S.; Pollard, L.; Ribeiro, I.; Wang, R.Y.; Miller, N.


Book ID
122557810
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
628 KB
Volume
112
Category
Article
ISSN
1096-7192

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Molecular analysis of Turkish mucopolysa
โœ Mugen Terzioglu; Aysegul Tokatli; Turgay Coskun; Serap Emre ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 40 KB ๐Ÿ‘ 2 views

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4). The deficiency of N-acetylgalactosamine-6-sulfate sulfatase leads to lysosomal accumulation of undegraded glycosaminoglycans, keratan sulfate