Harada, Yosuke

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. [electronic resource] - Journal of neurology Sep 2002 - 1211-9 p. digital

Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

0340-5354

10.1007/s00415-002-0811-4 doi


Adolescent
Adult
Aged
Child
Child, Preschool
Cyclic AMP Response Element-Binding Protein
Female
Haplotypes--genetics
Humans
Infant
Male
Middle Aged
Muscular Atrophy, Spinal--genetics
Nerve Tissue Proteins--genetics
Pedigree
Phenotype
RNA, Messenger--genetics
RNA-Binding Proteins
SMN Complex Proteins
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein