Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

Buraczynska, M

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. [electronic resource] - American journal of human genetics Dec 1997 - 1287-92 p. digital

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

0002-9297

10.1086/301646 doi


Carrier Proteins--genetics
Cohort Studies
DNA Mutational Analysis
Exons--genetics
Eye Proteins
Humans
Male
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
RNA Splicing
Retinitis Pigmentosa--genetics
Sequence Deletion
X Chromosome--genetics