Ann Lab Med.
2015 Jan;35(1):181-184. 10.3343/alm.2015.35.1.181.
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
- Affiliations
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- 1Division of Nephrology, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
- 2Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
- 3Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
- 4Department of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea. lsok@catholic.ac.kr
- KMID: 2363175
- DOI: http://doi.org/10.3343/alm.2015.35.1.181
Abstract
- No abstract available.
MeSH Terms
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Adult
Alleles
Asian Continental Ancestry Group/*genetics
Bardet-Biedl Syndrome/diagnosis/*genetics
Base Sequence
Blindness/pathology
DNA/chemistry/metabolism
Exons
*Heterozygote
Humans
Macular Degeneration/diagnosis
Male
*Mutation
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Proteins/*genetics
Republic of Korea
DNA
Proteins
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