Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Zeitz, Christina
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. [electronic resource] - American journal of human genetics Jan 2013 - 67-75 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2012.10.023 doi
Exome
Eye Diseases, Hereditary--genetics
Female
Genetic Diseases, X-Linked--genetics
Humans
Male
Membrane Proteins--analysis
Middle Aged
Mutation
Myopia--genetics
Night Blindness--genetics
Polymorphism, Genetic
Retina--chemistry
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. [electronic resource] - American journal of human genetics Jan 2013 - 67-75 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2012.10.023 doi
Exome
Eye Diseases, Hereditary--genetics
Female
Genetic Diseases, X-Linked--genetics
Humans
Male
Membrane Proteins--analysis
Middle Aged
Mutation
Myopia--genetics
Night Blindness--genetics
Polymorphism, Genetic
Retina--chemistry