Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
- 1 December 2006
- journal article
- research article
- Published by Elsevier BV in Neuromuscular Disorders
- Vol. 16 (12), 830-838
- https://doi.org/10.1016/j.nmd.2006.08.011
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculationsEuropean Journal of Human Genetics, 2004
- The SMN complexExperimental Cell Research, 2004
- Spinal muscular atrophy: molecular genetics and diagnosticsExpert Review of Molecular Diagnostics, 2004
- Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counsellingJournal of Medical Genetics, 2003
- Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplificationNucleic Acids Research, 2002
- Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their familiesJournal of the Neurological Sciences, 2001
- Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7neurogenetics, 1997
- Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAsHuman Molecular Genetics, 1995
- De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular AtrophiesScience, 1994
- Quantitation of muscle function in children: A prospective study in duchenne muscular dystrophyMuscle & Nerve, 1982