Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
Soens, Zachry T
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 10 2016 - 1044-51 p. digital
Publication Type: Journal Article
1530-0366
10.1038/gim.2015.205 doi
Animals
Antigens, Neoplasm--genetics
Child, Preschool
Cilia--genetics
Exome--genetics
Female
High-Throughput Nucleotide Sequencing
Humans
Leber Congenital Amaurosis--genetics
Male
Mutation
Photoreceptor Cells--metabolism
Retinal Degeneration--genetics
Zebrafish
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 10 2016 - 1044-51 p. digital
Publication Type: Journal Article
1530-0366
10.1038/gim.2015.205 doi
Animals
Antigens, Neoplasm--genetics
Child, Preschool
Cilia--genetics
Exome--genetics
Female
High-Throughput Nucleotide Sequencing
Humans
Leber Congenital Amaurosis--genetics
Male
Mutation
Photoreceptor Cells--metabolism
Retinal Degeneration--genetics
Zebrafish