Mutations in the RPGR gene cause X-linked cone dystrophy.

Yang, Zhenglin

Mutations in the RPGR gene cause X-linked cone dystrophy. [electronic resource] - Human molecular genetics Mar 2002 - 605-11 p. digital

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

0964-6906

10.1093/hmg/11.5.605 doi


Amino Acid Sequence
Base Sequence
Carrier Proteins--genetics
Color Vision Defects--genetics
Eye Proteins
Glutamic Acid--metabolism
Heterozygote
Humans
Male
Mutation--genetics
Open Reading Frames
Pedigree
Photophobia--genetics
Retinal Cone Photoreceptor Cells--physiopathology
Retinal Degeneration--genetics
Sequence Deletion
Visual Fields
X Chromosome