Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.

Ronchi, Dario

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype. [electronic resource] - Journal of molecular neuroscience : MN May 2015 - 212-5 p. digital

Publication Type: Case Reports; Journal Article

1559-1166

10.1007/s12031-014-0483-4 doi


Exons
Humans
Infant
Male
Muscular Atrophy, Spinal--diagnosis
Mutation
Phenotype
Survival of Motor Neuron 1 Protein--genetics