Polok, Bozena

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