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FISH diagnosis of the common 57-kb deletion inCTNScausing cystinosis

โœ Scribed by Claude Bendavid; Robert Kleta; Robert Long; Maia Ouspenskaia; Maximilian Muenke; Bassem R. Haddad; William A. Gahl


Book ID
106134038
Publisher
Springer
Year
2004
Tongue
English
Weight
129 KB
Volume
115
Category
Article
ISSN
0340-6717

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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