Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

Author(s):
Oliveira, J.; Oliveira, M.E.; Kress, W.; Taipa, R.; Pires, M.M.; Hilbert, P.; Baxter, P.; Santos, M.; Buermans, H.; Dunnen, J.T. den (0000-0002-6304-1710); Santos, R.
Published
2013
Publication type
Article / Letter to editor
locus-specific databaseMTM1novel mutations
Date issued
2013-05-31
Language
English
Is part of
European Journal of Human Genetics (2013), Vol. 21, no. 5, p. 540-549
hdl
1887/100054
doi
10.1038/ejhg.2012.201