article_metadata: Seok Joon Shin Myungshin Kim Hyojin Chae Ahlm Kwon Yonggoo Kim Sung Jun Kim Hye Eun Yoon Dong Wook Jekarl Seungok Lee
article_metadata: 10.3343/alm.2015.35.1.181
article_metadata: Ann Lab Med
article_metadata: 2015 Jan;35(1):181-4.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25553308/
article_metadata: Asian People / genetics Bardet-Biedl Syndrome / genetics Heterozygote Mutation Proteins / genetics
article_metadata: Asian People / genetics Bardet-Biedl Syndrome / genetics Heterozygote Mutation Proteins / genetics Case Reports Letter Research Support, Non-U.S. Gov't Adaptor Proteins, Signal Transducing Adult Alleles Bardet-Biedl Syndrome / diagnosis Base Sequence Blindness / pathology Cytoskeletal Proteins DNA / chemistry DNA / metabolism Exons Humans Macular Degeneration / diagnosis Male Pedigree Phenotype Polymorphism, Single Nucleotide Republic of Korea Adaptor Proteins, Signal Transducing Bbs7 protein, human Cytoskeletal Proteins Proteins DNA
article_metadata: PMC4272959
article_metadata: 25553308
article_metadata: Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome
article_metadata: 2015