SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion
- 1 February 2000
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 8 (2), 79-86
- https://doi.org/10.1038/sj.ejhg.5200404