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

doi:10.3343/alm.2015.35.1.181

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

Research output: Contribution to journal › Letter › peer-review

12 Scopus citations

Original language	English
Pages (from-to)	181-184
Number of pages	4
Journal	Annals of Laboratory Medicine
Volume	35
Issue number	1
DOIs	https://doi.org/10.3343/alm.2015.35.1.181
State	Published - 2015

Access to Document

10.3343/alm.2015.35.1.181

Cite this

@article{2f1665ef24154c34a088ac701496fec7,

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

author = "Shin, \{Seok Joon\} and Myungshin Kim and Hyojin Chae and Ahlm Kwon and Yonggoo Kim and Kim, \{Sung Jun\} and Yoon, \{Hye Eun\} and Jekarl, \{Dong Wook\} and Seungok Lee",

year = "2015",

doi = "10.3343/alm.2015.35.1.181",

language = "English",

volume = "35",

pages = "181--184",

journal = "Annals of Laboratory Medicine",

issn = "2234-3806",

publisher = "Korean Society for Laboratory Medicine",

number = "1",

}

TY - JOUR

T1 - Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome

AU - Shin, Seok Joon

AU - Kim, Myungshin

AU - Chae, Hyojin

AU - Kwon, Ahlm

AU - Kim, Yonggoo

AU - Kim, Sung Jun

AU - Yoon, Hye Eun

AU - Jekarl, Dong Wook

AU - Lee, Seungok

PY - 2015

Y1 - 2015

UR - https://www.scopus.com/pages/publications/84920512179

U2 - 10.3343/alm.2015.35.1.181

DO - 10.3343/alm.2015.35.1.181

M3 - Letter

C2 - 25553308

AN - SCOPUS:84920512179

SN - 2234-3806

VL - 35

SP - 181

EP - 184

JO - Annals of Laboratory Medicine

JF - Annals of Laboratory Medicine

IS - 1

ER -

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

Access to Document

Other files and links

Cite this