Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome

Ann Lab Med. 2015 Jan;35(1):181-4. doi: 10.3343/alm.2015.35.1.181. Epub 2014 Dec 8.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Alleles
  • Asian People / genetics*
  • Bardet-Biedl Syndrome / diagnosis
  • Bardet-Biedl Syndrome / genetics*
  • Base Sequence
  • Blindness / pathology
  • Cytoskeletal Proteins
  • DNA / chemistry
  • DNA / metabolism
  • Exons
  • Heterozygote*
  • Humans
  • Macular Degeneration / diagnosis
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Proteins / genetics*
  • Republic of Korea

Substances

  • Adaptor Proteins, Signal Transducing
  • Bbs7 protein, human
  • Cytoskeletal Proteins
  • Proteins
  • DNA