Imperial College London
Portrait Picture

Dr Sek-Shir Cheong

Faculty of Medicine, National Heart & Lung Institute

Research Associate
 
 
 
//

Contact

 

sek-shir.cheong

 
 
//

Location

 

Desk 10Sir Alexander Fleming BuildingSouth Kensington Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Cheong:2017:10.1038/hgv.2017.4,
author = {Cheong, S-S and Hull, S and Jones, B and Chana, R and Thornton, N and Plagnol, V and Moore, AT and Hardcastle, AJ},
doi = {10.1038/hgv.2017.4},
journal = {Human Genome Variation},
title = {Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype},
url = {http://dx.doi.org/10.1038/hgv.2017.4},
volume = {4},
year = {2017}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. Wereport a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs20) as the cause of congenital cataract intwo affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting thehypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2isoforms.
AU  - Cheong,S-S
AU  - Hull,S
AU  - Jones,B
AU  - Chana,R
AU  - Thornton,N
AU  - Plagnol,V
AU  - Moore,AT
AU  - Hardcastle,AJ
DO  - 10.1038/hgv.2017.4
PY  - 2017///
SN  - 2054-345X
TI  - Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
T2  - Human Genome Variation
UR  - http://dx.doi.org/10.1038/hgv.2017.4
UR  - http://hdl.handle.net/10044/1/53588
VL  - 4
ER  -
Download