𝔖 Bobbio Scriptorium
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Striking results with gene therapy in congenital blindness

Book ID
120844582
Publisher
Adis International Limited (now part of Wolters Kluwer Health)
Year
2008
Weight
140 KB
Volume
&NA;
Category
Article
ISSN
1173-8324

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Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA). An in-frame deletion in Cep290 shows rapid degeneration in the rod-rich mouse retina. To explore t