Title: | Spinal muscular atrophy carriers with two SMN1 copies |
Journal : | Brain & development, 39, 10 |
Authors: | Ar Rochmah M, Author ; Awano H ; Awaya T ; Harahap NIF ; Morisada N ; Bouike Y ; Saito T ; Kubo Y ; Saito K ; Lai PS ; Morioka I ; Iijima K ; Nishio H ; Shinohara M |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 851 |
Languages: | English |
Keywords : | diagnosis ; genetic diagnosis ; genetic mutations ; genetics ; heterozygotes ; SMN1 gene ; SMN1-related proximal spinal muscular atrophy |
Keywords: | Carrier testing;Gene conversion;Genetic counseling;Intragenic mutation;Spinal muscular atrophy; |
Pubmed / DOI : | DOI : 10.1016/j.braindev.2017.06.002 / Pubmed : 28676237 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28676237 |