title: Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.
authors.affiliation: Division of Nephrology, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Seok Joon
authors.initials: SJ
authors.lastname: Shin
authors.affiliation: Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea. ; Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.affiliation: Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea. ; Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Hyojin
authors.initials: H
authors.lastname: Chae
authors.affiliation: Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
authors.forename: Ahlm
authors.initials: A
authors.lastname: Kwon
authors.affiliation: Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea. ; Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Yonggoo
authors.initials: Y
authors.lastname: Kim
authors.affiliation: Division of Nephrology, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Sung Jun
authors.initials: SJ
authors.lastname: Kim
authors.affiliation: Division of Nephrology, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Hye Eun
authors.initials: HE
authors.lastname: Yoon
authors.affiliation: Department of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Dong Wook
authors.initials: DW
authors.lastname: Jekarl
authors.affiliation: Department of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Seungok
authors.initials: S
authors.lastname: Lee
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D001766:Blindness / Q000473:pathology; D003598:Cytoskeletal Proteins; D004247:DNA / Q000737:chemistry / Q000378:metabolism; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D056910:Republic of Korea
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C473308:Bbs7 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins; D004247:DNA