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Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24

✍ Scribed by Mitsuo Masuno; Shunji Tomatsu; Yoshihiro Nakashima; Toshinori Hori; Seiji Fukuda; Michiya Masue; Kazuko Sukegawa; Tadao Orii


Book ID
115611636
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
132 KB
Volume
16
Category
Article
ISSN
0888-7543

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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