Title: | The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing |
Journal : | Genetics in medicine : official journal of the American College of Medical Genetics, 19, 8 |
Authors: | Feng Y, Author ; Ge X ; Meng L ; Scull J ; Li J ; Tian X ; Zhang T ; Jin W ; Cheng H ; Wang X ; Tokita M ; Liu P ; Mei H ; Wang Y ; Li F ; Schmitt ES ; Zhang WV ; Muzny D ; Wen S ; Chen Z ; Yang Y ; Beaudet AL ; Liu X ; Eng CM ; Xia F ; Wong LJ ; Zhang J |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 936 |
Languages: | English |
Keywords : | diagnosis ; genetics ; sequencing ; SMN1 gene ; SMN1-related proximal spinal muscular atrophy ; SMN2 gene |
Pubmed / DOI : | DOI : 10.1038/gim.2016.215 / Pubmed : 28125085 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28125085 |