The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin. Up to now
✦ LIBER ✦
Clinical and molecular aspects of nephropathic cystinosis
✍ Scribed by Geraldine A. McDowell; Margaret M. Town; William van’t Hoff; W. A. Gahl
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 486 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0946-2716
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