## Sly a-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MI'S-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Previous studies in Caucasian populations showed that ( 1) homozygosity or compou
β¦ LIBER β¦
Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature
β Scribed by Baldwin, Clinton T. ;Hoth, Christopher F. ;Macina, Roberto A. ;Milunsky, Aubrey
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 819 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0148-7299
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