Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault, Isabelle

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. [electronic resource] - Human mutation Apr 2007 - 416 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.9485 doi


Adult
Alleles
Antigens, Neoplasm--genetics
Cell Cycle Proteins
Child
Child, Preschool
Cytoskeletal Proteins
Exons
Frameshift Mutation
Humans
Infant
Introns
Linkage Disequilibrium
Neoplasm Proteins--genetics
Optic Atrophy, Hereditary, Leber--genetics