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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 ; : 181-184, 2015.
Article in En | WPRIM | ID: wpr-64344
Responsible library: WPRO
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Full text: 1 Index: WPRIM Main subject: Pedigree / Phenotype / DNA / Base Sequence / Proteins / Blindness / Exons / Bardet-Biedl Syndrome / Polymorphism, Single Nucleotide / Asian People Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Humans / Male Country/Region as subject: Asia Language: En Journal: Annals of Laboratory Medicine Year: 2015 Type: Article
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Full text: 1 Index: WPRIM Main subject: Pedigree / Phenotype / DNA / Base Sequence / Proteins / Blindness / Exons / Bardet-Biedl Syndrome / Polymorphism, Single Nucleotide / Asian People Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Humans / Male Country/Region as subject: Asia Language: En Journal: Annals of Laboratory Medicine Year: 2015 Type: Article