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Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

✍ 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