TY  - GEN
AU  - Estrada-Cuzcano,Alejandro
AU  - Neveling,Kornelia
AU  - Kohl,Susanne
AU  - Banin,Eyal
AU  - Rotenstreich,Ygal
AU  - Sharon,Dror
AU  - Falik-Zaccai,Tzipora C
AU  - Hipp,Stephanie
AU  - Roepman,Ronald
AU  - Wissinger,Bernd
AU  - Letteboer,Stef J F
AU  - Mans,Dorus A
AU  - Blokland,Ellen A W
AU  - Kwint,Michael P
AU  - Gijsen,Sabine J
AU  - van Huet,Ramon A C
AU  - Collin,Rob W J
AU  - Scheffer,H
AU  - Veltman,Joris A
AU  - Zrenner,Eberhart
AU  - den Hollander,Anneke I
AU  - Klevering,B Jeroen
AU  - Cremers,Frans P M
TI  - Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
SN  - 1537-6605
PY  - 2012///0312
KW  - Adolescent
KW  - Age of Onset
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Mapping
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Genes, Recessive
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Polymorphism, Single Nucleotide
KW  - Proteins
KW  - genetics
KW  - Retinal Dystrophies
KW  - Retinal Pigment Epithelium
KW  - metabolism
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.11.015
ER  -