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Mucopolysaccharidosis IV A: Molecular Cloning of the Human N-Acetylgalactosamine-6-sulfatase Gene (GALNS) and Analysis of the 5′-Flanking Region

✍ Scribed by Yoshihiro Nakashima; Shunji Tomatsu; Toshinori Hori; Seiji Fukuda; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii


Book ID
115611997
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
365 KB
Volume
20
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