TY  - GEN
AU  - Perrault,Isabelle
AU  - Delphin,Nathalie
AU  - Hanein,Sylvain
AU  - Gerber,Sylvie
AU  - Dufier,Jean-Louis
AU  - Roche,Olivier
AU  - Defoort-Dhellemmes,Sabine
AU  - Dollfus,Hélène
AU  - Fazzi,Elisa
AU  - Munnich,Arnold
AU  - Kaplan,Josseline
AU  - Rozet,Jean-Michel
TI  - Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
SN  - 1098-1004
PY  - 2007///0501
KW  - Adult
KW  - Alleles
KW  - Antigens, Neoplasm
KW  - genetics
KW  - Cell Cycle Proteins
KW  - Child
KW  - Child, Preschool
KW  - Cytoskeletal Proteins
KW  - Exons
KW  - Frameshift Mutation
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Linkage Disequilibrium
KW  - Neoplasm Proteins
KW  - Optic Atrophy, Hereditary, Leber
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.9485
ER  -