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

Annals of Laboratory Medicine

Volumn 35, Issue 1, 2015, Pages 181-184

  Shin, Seok Joon ^a   Kim, Myungshin ^b   Chae, Hyojin ^b   Kwon, Ahlm ^b   Kim, Yonggoo ^b   Kim, Sung Jun ^a   Yoon, Hye Eun ^a   Jekarl, Dong Wook ^a   Lee, Seungok ^a  

^a Catholic University of Korea   (South Korea)

^b The Catholic University of Korea   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

BBS7 PROTEIN, HUMAN; DNA; PROTEIN;

ADULT; ALLELE; ASIAN CONTINENTAL ANCESTRY GROUP; BARDET-BIEDL SYNDROME; BLINDNESS; CASE REPORT; CHEMISTRY; EXON; GENETICS; HETEROZYGOTE; HUMAN; MACULAR DEGENERATION; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BARDET-BIEDL SYNDROME; BASE SEQUENCE; BLINDNESS; DNA; EXONS; HETEROZYGOTE; HUMANS; MACULAR DEGENERATION; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; REPUBLIC OF KOREA;

EID: 84920512179     PISSN: 22343806     EISSN: 22343814     Source Type: Journal    
DOI: 10.3343/alm.2015.35.1.181     Document Type: Letter

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