Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano, Alejandro
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. [electronic resource] - American journal of human genetics Jan 2012 - 102-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2011.11.015 doi
Adolescent
Age of Onset
Base Sequence
Child
Child, Preschool
Chromosome Mapping
Consanguinity
DNA Mutational Analysis
Exons
Female
Genes, Recessive
Humans
Infant
Introns
Male
Molecular Sequence Data
Mutation
Polymorphism, Single Nucleotide
Proteins--genetics
Retinal Dystrophies--genetics
Retinal Pigment Epithelium--metabolism
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. [electronic resource] - American journal of human genetics Jan 2012 - 102-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2011.11.015 doi
Adolescent
Age of Onset
Base Sequence
Child
Child, Preschool
Chromosome Mapping
Consanguinity
DNA Mutational Analysis
Exons
Female
Genes, Recessive
Humans
Infant
Introns
Male
Molecular Sequence Data
Mutation
Polymorphism, Single Nucleotide
Proteins--genetics
Retinal Dystrophies--genetics
Retinal Pigment Epithelium--metabolism