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

KCI Citation Count: 5

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Bibliographic Details
Published inAnnals of laboratory medicine Vol. 35; no. 1; pp. 181 - 184
Main Authors Shin, Seok Joon, Kim, Myungshin, Chae, Hyojin, Kwon, Ahlm, Kim, Yonggoo, Kim, Sung Jun, Yoon, Hye Eun, Jekarl, Dong Wook, Lee, Seungok
Format Journal Article
LanguageEnglish
Published Korea (South) The Korean Society for Laboratory Medicine 01.01.2015
대한진단검사의학회
Subjects
Adult
Alleles
Asian Continental Ancestry Group - genetics
Bardet-Biedl Syndrome - diagnosis
Bardet-Biedl Syndrome - genetics
Base Sequence
Blindness - pathology
DNA - chemistry
DNA - metabolism
Exons
Heterozygote
Humans
Letter to the Editor
Macular Degeneration - diagnosis
Male
Mutation
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Proteins - genetics
Republic of Korea
병리학
Online AccessGet full text
ISSN2234-3806
2234-3814
2234-3814
DOI10.3343/alm.2015.35.1.181

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Summary:KCI Citation Count: 5
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Correspondence-3
content type line 23
ObjectType-Article-4
ObjectType-Report-1
G704-000327.2015.35.1.003
ISSN:2234-3806
2234-3814
2234-3814
DOI:10.3343/alm.2015.35.1.181