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
β¦ LIBER β¦
Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)
β Scribed by Yair Anikster; Cynthia Lucero; Jeffrey W. Touchman; Marjan Huizing; Geraldine McDowell; Vorasuk Shotelersuk; Eric D. Green; William A. Gahl
- Book ID
- 115639475
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 135 KB
- Volume
- 66
- Category
- Article
- ISSN
- 1096-7192
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## Communicated by Johannes Zschocke The most common mutation in the nephropathic cystinosis (CTNS) gene is a homozygous 57-kb deletion that also includes an adjacent gene carbohydrate kinase-like (CARKL). The latter gene encodes a protein that is predicted to function as a carbohydrate kinase. Cy
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