关键词: 5′UTR variants Alu-mediated deletions LCA9 Leber congenital amaurosis NMNAT1
Mesh : 5' Untranslated Regions Alleles Alu Elements Child Chromosome Breakpoints Chromosome Mapping Computational Biology / methods Consanguinity DNA Copy Number Variations Exons Female Gene Expression Genetic Association Studies Genotype Humans Intracellular Signaling Peptides and Proteins / genetics Leber Congenital Amaurosis / diagnosis genetics Male Mutation Nicotinamide-Nucleotide Adenylyltransferase / genetics Pedigree Phenotype RNA, Messenger / genetics Sequence Analysis, DNA Young Adult
来 源:
DOI:10.1002/humu.22899
PDF(Sci-hub)