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Intraoperative hyperthermia in a paediatric patient with cystinosis

✍ Scribed by JONATHAN P. PURDAY; CAROLYNE J. MONTGOMERY; DEREK BLACKSTOCK

Book ID
109029085
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
358 KB
Volume
5
Category
Article
ISSN
1155-5645

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CTNS mutations in patients with cystinos
CTNS mutations in patients with cystinosis
✍ Yair Anikster; Vorasuk Shotelersuk; William A. Gahl πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 210 KB πŸ‘ 2 views

Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven transmembrane domains and is thought to transport cystine out of lysosomes. The most common form of cystinosis, the nephropathic or in