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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Abstract KCI Citation Count: 5
AbstractList KCI Citation Count: 5
Author Chae, Hyojin
Kim, Myungshin
Lee, Seungok
Yoon, Hye Eun
Jekarl, Dong Wook
Kim, Sung Jun
Shin, Seok Joon
Kim, Yonggoo
Kwon, Ahlm
AuthorAffiliation 2 Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea
3 Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
1 Division of Nephrology, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
4 Department of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
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  givenname: Myungshin
  surname: Kim
  fullname: Kim, Myungshin
  organization: Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul, Korea, Department of Laboratory Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
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  givenname: Hyojin
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  givenname: Ahlm
  surname: Kwon
  fullname: Kwon, Ahlm
  organization: Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul, Korea
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  givenname: Yonggoo
  surname: Kim
  fullname: Kim, Yonggoo
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  givenname: Sung Jun
  surname: Kim
  fullname: Kim, Sung Jun
  organization: Division of Nephrology, Department of Internal Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
– sequence: 7
  givenname: Hye Eun
  surname: Yoon
  fullname: Yoon, Hye Eun
  organization: Division of Nephrology, Department of Internal Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
– sequence: 8
  givenname: Dong Wook
  surname: Jekarl
  fullname: Jekarl, Dong Wook
  organization: Department of Laboratory Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
– sequence: 9
  givenname: Seungok
  surname: Lee
  fullname: Lee, Seungok
  organization: Department of Laboratory Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
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10.1002/humu.21480
10.1136/jmg.36.6.437
10.1016/j.cell.2007.03.053
10.1242/jcs.111740
10.3109/13816810.2011.567319
10.1002/ajmg.c.30231
10.1167/iovs.11-7554
10.1126/science.1063525
10.1101/gad.1194004
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대한진단검사의학회
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References Zhang (10.3343/alm.2015.35.1.181_ref10) 2013; 126
Nachury (10.3343/alm.2015.35.1.181_ref8) 2007; 129
Beales (10.3343/alm.2015.35.1.181_ref1) 1999; 36
Deveault (10.3343/alm.2015.35.1.181_ref3) 2011; 32
Blacque (10.3343/alm.2015.35.1.181_ref9) 2004; 18
Katsanis (10.3343/alm.2015.35.1.181_ref7) 2001; 293
Baker (10.3343/alm.2015.35.1.181_ref2) 2009; 151C
Wang (10.3343/alm.2015.35.1.181_ref6) 2013; 50
Billingsley (10.3343/alm.2015.35.1.181_ref5) 2011; 32
Chen (10.3343/alm.2015.35.1.181_ref4) 2011; 52
10874630 - J Med Genet. 1999 Jun;36(6):437-46
21463199 - Ophthalmic Genet. 2011 Sep;32(3):181-7
17574030 - Cell. 2007 Jun 15;129(6):1201-13
21344540 - Hum Mutat. 2011 Jun;32(6):610-9
19876933 - Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95
23572516 - J Cell Sci. 2013 Jun 1;126(Pt 11):2372-80
21642631 - Invest Ophthalmol Vis Sci. 2011 Jul;52(8):5317-24
15231740 - Genes Dev. 2004 Jul 1;18(13):1630-42
23847139 - J Med Genet. 2013 Oct;50(10):674-88
11567139 - Science. 2001 Sep 21;293(5538):2256-9
References_xml – volume: 50
  start-page: 674
  year: 2013
  ident: 10.3343/alm.2015.35.1.181_ref6
  publication-title: J Med Genet
  doi: 10.1136/jmedgenet-2013-101558
– volume: 32
  start-page: 610
  year: 2011
  ident: 10.3343/alm.2015.35.1.181_ref3
  publication-title: Hum Mutat
  doi: 10.1002/humu.21480
– volume: 36
  start-page: 437
  year: 1999
  ident: 10.3343/alm.2015.35.1.181_ref1
  publication-title: J Med Genet
  doi: 10.1136/jmg.36.6.437
– volume: 129
  start-page: 1201
  year: 2007
  ident: 10.3343/alm.2015.35.1.181_ref8
  publication-title: Cell
  doi: 10.1016/j.cell.2007.03.053
– volume: 126
  start-page: 2372
  year: 2013
  ident: 10.3343/alm.2015.35.1.181_ref10
  publication-title: J Cell Sci
  doi: 10.1242/jcs.111740
– volume: 32
  start-page: 181
  year: 2011
  ident: 10.3343/alm.2015.35.1.181_ref5
  publication-title: Ophthalmic Genet
  doi: 10.3109/13816810.2011.567319
– volume: 151C
  start-page: 281
  year: 2009
  ident: 10.3343/alm.2015.35.1.181_ref2
  publication-title: Am J Med Genet C Semin Med Genet
  doi: 10.1002/ajmg.c.30231
– volume: 52
  start-page: 5317
  year: 2011
  ident: 10.3343/alm.2015.35.1.181_ref4
  publication-title: Invest Ophthalmol Vis Sci
  doi: 10.1167/iovs.11-7554
– volume: 293
  start-page: 2256
  year: 2001
  ident: 10.3343/alm.2015.35.1.181_ref7
  publication-title: Science
  doi: 10.1126/science.1063525
– volume: 18
  start-page: 1630
  year: 2004
  ident: 10.3343/alm.2015.35.1.181_ref9
  publication-title: Genes Dev
  doi: 10.1101/gad.1194004
– reference: 11567139 - Science. 2001 Sep 21;293(5538):2256-9
– reference: 17574030 - Cell. 2007 Jun 15;129(6):1201-13
– reference: 21642631 - Invest Ophthalmol Vis Sci. 2011 Jul;52(8):5317-24
– reference: 23572516 - J Cell Sci. 2013 Jun 1;126(Pt 11):2372-80
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– reference: 15231740 - Genes Dev. 2004 Jul 1;18(13):1630-42
– reference: 21344540 - Hum Mutat. 2011 Jun;32(6):610-9
– reference: 19876933 - Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95
– reference: 23847139 - J Med Genet. 2013 Oct;50(10):674-88
– reference: 10874630 - J Med Genet. 1999 Jun;36(6):437-46
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StartPage 181
SubjectTerms 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
Title Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
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