Seok Joon Shin Myungshin Kim Hyojin Chae Ahlm Kwon Yonggoo Kim Sung Jun Kim Hye Eun Yoon Dong Wook Jekarl Seungok Lee
10.3343/alm.2015.35.1.181
Ann Lab Med
2015 Jan;35(1):181-4.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/25553308/
Asian People / genetics Bardet-Biedl Syndrome / genetics Heterozygote Mutation Proteins / genetics
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
PMC4272959
25553308
Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome
2015