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MeSH:(Bardet-Biedl Syndrome/diagnosis/*genetics)

1.Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome.

Seok Joon SHIN ; Myungshin KIM ; Hyojin CHAE ; Ahlm KWON ; Yonggoo KIM ; Sung Jun KIM ; Hye Eun YOON ; Dong Wook JEKARL ; Seungok LEE

Annals of Laboratory Medicine 2015;35(1):181-184

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