Title: | Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1 |
Journal : | Journal of child neurology, 30, 5 |
Authors: | Ganji H ; Nouri N ; Salehi M ; Aryani O ; Houshmand M ; Basiri K ; Fazel-Najafabadi E ; Sedghi M |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 558 |
Languages: | English |
Keywords : | genetic mutations ; heterozygotes ; SMN1 gene ; spinal muscular atrophy |
Keywords: | SMN1;point mutations;spinal muscular atrophy; |
Pubmed / DOI : | Pubmed : 24563475 / DOI : 10.1177/0883073814521297 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24563475 |