TY  - GEN
AU  - Ronchi,Dario
AU  - Previtali,Stefano Carlo
AU  - Sora,Maria Grazia Natali
AU  - Barera,Graziano
AU  - Del Menico,Benedetta
AU  - Corti,Stefania
AU  - Bresolin,Nereo
AU  - Comi,Giacomo Pietro
TI  - Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype
SN  - 1559-1166
PY  - 2015///1224
KW  - Exons
KW  - Humans
KW  - Infant
KW  - Male
KW  - Muscular Atrophy, Spinal
KW  - diagnosis
KW  - Mutation
KW  - Phenotype
KW  - Survival of Motor Neuron 1 Protein
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s12031-014-0483-4
ER  -