𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome

✍ Scribed by Lionel Arnaud; François Salachas; Nicole Lucien; Thierry Maisonobe; Pierre-Yves Le Pennec; Jérôme Babinet; Jean-Pierre Cartron


Book ID
109144367
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
180 KB
Volume
49
Category
Article
ISSN
0372-1248

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Identification of 14 novel CTNS mutation
✍ Vasiliki Kalatzis; Lola Cohen-Solal; Béatrice Cordier; Yaacov Frishberg; Markus 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 190 KB 👁 1 views

Cystinosis is an autosomal recessive disorder characterized by intra-lysosomal accumulation of cystine. Three disease forms exist, infantile, juvenile, and ocular nonnephropathic cystinosis, delineated on the basis of severity of symptoms and age of onset. Mutations in the causative gene, CTNS, whic