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

Submitted by José Pereira (jro.pereira@gmail.com) on 2014-09-22T10:51:53Z No. of bitstreams: 1 Expanding the MTM1 mutational spectrum.pdf: 210711 bytes, checksum: d554f974d074d433d6d6a5fb219dc1c8 (MD5)

Bibliographic Details
Main Author: Oliveira, J. (author)
Other Authors: Oliveira, M. (author), Kress, W. (author), Taipa, R. (author), Melo-Pires, M. (author), Hilbert, P. (author), Baxter, P. (author), Santos, M. (author), Buermans, H. (author), den Dunnen, J. (author), Santos, R. (author)
Format: article
Language:eng
Published: 2014
Subjects:
Online Access:http://hdl.handle.net/10400.16/1683
Country:Brazil
Oai:oai:repositorio.chporto.pt:10400.16/1683
Description
Summary:Submitted by José Pereira (jro.pereira@gmail.com) on 2014-09-22T10:51:53Z No. of bitstreams: 1 Expanding the MTM1 mutational spectrum.pdf: 210711 bytes, checksum: d554f974d074d433d6d6a5fb219dc1c8 (MD5)