全外显子组测序揭示了引起先天性白内障的晶状体特异性间隙连接蛋白编码基因中新型和复发性疾病引起的变异。
关键词: GJA3 GJA8 autosomal dominant congenital cataract whole exome sequencing
Mesh : Amino Acid Sequence Animals Base Sequence Cataract / congenital genetics Connexins / chemistry genetics Exome Female Genes, Dominant Genetic Variation High-Throughput Nucleotide Sequencing Lens, Crystalline / metabolism Male Models, Molecular Mutation, Missense Pedigree Phenotype Protein Conformation Sequence Alignment Sequence Homology, Amino Acid United Kingdom Vertebrates / genetics Whole Exome Sequencing
来 源:
DOI:10.3390/genes11050512
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