Title: | The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study |
Journal : | Medicine, 99, 3 |
Authors: | Zhang Y ; He J ; Zhang Y ; Li L ; Tang X ; Wang L ; Guo J ; Jin C ; Tighe S ; Zhang Y ; Zhu Y ; Zhu B |
Material Type: | Article |
Publisher: | United States, 01/2020 |
Languages: | English |
Keywords : | genotype-phenotype correlation ; motor neuron disease ; neuromuscular disease ; observational research ; proximal spinal muscular atrophy type 1 ; proximal spinal muscular atrophy type 2 ; proximal spinal muscular atrophy type 3 ; SMN1-related proximal spinal muscular atrophy ; SMN2 gene ; spinal muscular atrophy |
Pubmed / DOI : | Pubmed : 32011487 / DOI : 10.1097/MD.0000000000018809 |
N° Profil MNM : | 2020021 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32011487 |