Title: | Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy |
Journal : | The Journal of molecular diagnostics : JMD, 18, 5 |
Authors: | Qu YJ, Author ; Bai JL ; Cao YY ; Wang H ; Jin YW ; Du J ; Ge XS ; Zhang WH ; Li Y ; He SX ; Song F |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 741 |
Languages: | English |
Keywords : | allelic heterogeneity ; China ; cohort studies ; exon ; gene dosage ; genetic deletions ; genetic mutations ; MLPA ; nonsense mutations ; point mutations ; population genetics ; RT-PCR ; sex ; SMN1 gene ; SMN1-related proximal spinal muscular atrophy ; splicing |
Pubmed / DOI : | DOI : 10.1016/j.jmoldx.2016.05.004 / Pubmed : 27425821 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27425821 |