Splice-Site Mutation of Exon 3 Deletion in the Gamma-Glutamyl Carboxylase Gene Causes Inactivation of the Enzyme
J Invest Dermatol
.
2016 Nov;136(11):2314-2317.
doi: 10.1016/j.jid.2016.05.128.
Epub 2016 Jul 6.
Authors
Da-Yun Jin
1
,
Cees Vermeer
2
,
Darrel W Stafford
1
,
Jian-Ke Tie
3
Affiliations
1
Department of Biology, University of North Carolina at Chapel Hill, North Carolina, USA.
2
R&D Group VitaK, Maastricht University, Maastricht, The Netherlands.
3
Department of Biology, University of North Carolina at Chapel Hill, North Carolina, USA. Electronic address: jktie@email.unc.edu.
PMID:
27394683
PMCID:
PMC5077674
DOI:
10.1016/j.jid.2016.05.128
No abstract available
Publication types
Letter
Research Support, N.I.H., Extramural
MeSH terms
Carbon-Carbon Ligases / genetics*
Exons*
Humans
Mutation*
RNA Splicing*
Substances
Carbon-Carbon Ligases
glutamyl carboxylase
Grants and funding
R01 HL077740/HL/NHLBI NIH HHS/United States
R01 HL131690/HL/NHLBI NIH HHS/United States