Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome.
10.3343/alm.2015.35.1.181
- Author:
Seok Joon SHIN
1
;
Myungshin KIM
;
Hyojin CHAE
;
Ahlm KWON
;
Yonggoo KIM
;
Sung Jun KIM
;
Hye Eun YOON
;
Dong Wook JEKARL
;
Seungok LEE
Author Information
1. Division of Nephrology, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
- Publication Type:Case Reports ; Letter ; Research Support, Non-U.S. Gov't
- MeSH:
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
- From:Annals of Laboratory Medicine
2015;35(1):181-184
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.
