✦ LIBER ✦

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

✍ Scribed by Ogawa, Tatsuya; Tomatsu, Shunji; Fukuda, Seiji; Yamagishi, Atsushi; Rezvi, Golam Md. Maruf; Sukegawa, Kazuko; Kondo, Neomi; Suzuki, Yasuyuki; Shimozawa, Nobuyuki; Orii, Tadao

Book ID: 121418894
Publisher: Oxford University Press
Year: 1995
Tongue: English
Weight: 800 KB
Volume: 4
Category: Article
ISSN: 0964-6906
DOI: 10.1093/hmg/4.3.341

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mucopolysaccharidosis IVA (Morquio A): I

Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

✍ Shunji Tomatsu; Mirella Filocamo; Koji O. Orii; William S. Sly; Monica A. Gutier 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 249 KB 👁 2 views

Communicated by

Molecular analysis of Turkish mucopolysa

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene

✍ Mugen Terzioglu; Aysegul Tokatli; Turgay Coskun; Serap Emre 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 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

A novel common missense mutation G301C i

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

✍ Z. Kato; Seiji Fukuda; Shunji Tomatsu; Hugo Vega; Teruo Yasunaga; Atsushi Yamagi 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 77 KB

Mucopolysaccharidosis IVA (Morquio A): T

Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

✍ Seiji Fukuda; Shunji Tomatsu; Alan Cooper; J.E. Wraith; Zenichiro Kato; Naoto Ya 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 525 KB

Effect of ‘attenuated’ mutations in muco

Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes ofN-acetylgalactosamine-6-sulfate sulfatase

✍ A. M. Montaño; K. Sukegawa; Z. Kato; R. Carrozzo; P. Di Natale; E. Christensen; 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 417 KB

Crystal Structure of N-Acetylgalactosami

Crystal Structure of N-Acetylgalactosamine-6-Sulfatase: The Molecular Basis for Mucopolysaccharidosis Iva

✍ Rivera-Colon, Yadilette; Schutsky, Emily K.; Garman, Scott C. 📂 Article 📅 2013 🏛 Biophysical Society 🌐 English ⚖ 52 KB