Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

Authors:	Kalatzis Vasiliki Cohen-Solal Lola Cordier Béatrice Frishberg Yaacov Kemper Markus Nuutinen E Matti Legrand Eric Cochat Pierre Antignac Corinne

Affiliation:	1. Inserm U423, H?pital Necker‐Enfants Malades, Université René Descartes, Paris, France;2. Department of Pediatrics, H?pital Edouard Herriot, Université Claude Bernard, Lyon, France;3. Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel;4. Department of Pediatric Nephrology, University Children's Hospital, Zürich, Switzerland;5. Department of Pediatrics, University of Oulu, Oulu, Finland;6. Department of Medicine, Centre Hospitalier, Annonay, France;7. Department of Genetics, H?pital Necker‐Enfants Malades, Université René Descartes, Paris, FranceInserm U423, Tour Lavoisier, 6^ème étage, H?pital Necker‐Enfants Malades, 149 rue de Sèvres, 75015 Paris, France

Abstract:

Keywords:	CTNS cystinosin lysosome cystine transporter Fanconi syndrome cystinosis founder effect
本文献已被 PubMed 等数据库收录！