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N.P.2 04 Patients with spinal muscular atrophy (SMA) and healthy siblings sharing homozygous deletions of the SMN1 gene reveal an identical number of SMN2 gene copies but different SMN protein levels

Authors :
J. Dijkhuis
I. Plaza de Menacho
Yvonne J. Vos
M. de Visser
Henny H. Lemmink
Nine V A M Knoers
Charles H.C.M. Buys
Source :
Neuromuscular Disorders. 16:652
Publication Year :
2006
Publisher :
Elsevier BV, 2006.

Details

ISSN :
09608966
Volume :
16
Database :
OpenAIRE
Journal :
Neuromuscular Disorders
Accession number :
edsair.doi...........6979eec28c0855055ea9b7e09a971150
Full Text :
https://doi.org/10.1016/j.nmd.2006.05.042