Title: | Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene |
Journal : | Annals of neurology, 41, 5 |
Authors: | Navon R, Author ; Khosravi R ; Melki J ; Drucker L ; Fontaine B ; Turpin JC ; Nguyen B ; Fardeau M ; Rondot P ; Baumann N |
Material Type: | Article |
Publication Date: | 1997 |
Size: | p 631 |
Languages: | English |
Keywords : | adulthood ; case studies ; familial disease ; gene localization ; genetic mutations ; heterozygotes ; proximal spinal muscular atrophy type 3 ; SMN genes ; Tay-Sachs disease |
Pubmed / DOI : | Pubmed : 9153525 / DOI : 10.1002/ana.410410512 |