Exome Sequencing Identifies A Branch Point Variant in AarskogScott Syndrome

Author(s):
Aten, E.; Sun, Y.; Almomani, R.; Santen, G.W.E.; Messemaker, T.; Maas, S.M.; Breuning, M.H. (0000-0002-8212-4319); Dunnen, J.T. den (0000-0002-6304-1710)
Published
2013
Publication type
Article / Letter to editor
FGD1 proteinexome sequencingAarskog syndromeRNA splice sitesbranch point mutations
Date issued
2013-03-31
Language
English
Is part of
Human Mutation (2013), Vol. 34, no. 3, p. 430-434
hdl
1887/100673
doi
10.1002/humu.22252