Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. [electronic resource]
- American journal of human genetics Feb 2009
- 259-65 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2009.01.006 doi
Amelogenesis Imperfecta--genetics Cation Transport Proteins--genetics Female Gene Duplication Genes, Recessive Humans Male Mutation Pedigree Polymorphism, Single Nucleotide Retinal Cone Photoreceptor Cells--pathology Retinal Rod Photoreceptor Cells--pathology Retinitis Pigmentosa--genetics Sequence Deletion