𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: Identification of a novel mutation in the arylsulfatase B gene

✍ Scribed by Okamura, Ken; Munkhbat, Batmunkh; Batchimeg, Batbaatar; Tamiya, Gen; Hozumi, Yutaka; Suzuki, Tamio


Book ID
121849437
Publisher
John Wiley and Sons
Year
2013
Tongue
French
Weight
247 KB
Volume
40
Category
Article
ISSN
0385-2407

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of 16 sulfamidase gene mu
✍ Susanna Bunge; HΓΌseyin Ince; Cordula Steglich; Wim J. Kleijer; Michael Beck; Jac πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 152 KB πŸ‘ 2 views

## Communicated by JΓΌrgen Horst Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42