Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

Kabir, Firoz

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [electronic resource] - Molecular vision 2016 - 610-25 p. digital

Publication Type: Journal Article

1090-0535


Base Sequence
Consanguinity
DNA Mutational Analysis
Electroretinography
Exons
Eye Proteins--genetics
Female
Genetic Linkage
Genome-Wide Association Study
Humans
Lod Score
Loss of Function Mutation
Male
Microtubule-Associated Proteins
Mutation
Pedigree
Polymerase Chain Reaction
Retinitis Pigmentosa--diagnosis
Young Adult