TY  - GEN
AU  - Sossi,V
AU  - Giuli,A
AU  - Vitali,T
AU  - Tiziano,F
AU  - Mirabella,M
AU  - Antonelli,A
AU  - Neri,G
AU  - Brahe,C
TI  - Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
SN  - 1018-4813
PY  - 2001///0628
KW  - Adult
KW  - Aminoglycosides
KW  - Anti-Bacterial Agents
KW  - pharmacology
KW  - Blotting, Southern
KW  - Blotting, Western
KW  - Child, Preschool
KW  - Cloning, Molecular
KW  - Cyclic AMP Response Element-Binding Protein
KW  - DNA Primers
KW  - chemistry
KW  - Exons
KW  - Female
KW  - Fibroblasts
KW  - drug effects
KW  - Fluorescent Antibody Technique
KW  - Genotype
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Male
KW  - Muscular Atrophy, Spinal
KW  - genetics
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Protein Isoforms
KW  - RNA-Binding Proteins
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - SMN Complex Proteins
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - Survival of Motor Neuron 1 Protein
KW  - Survival of Motor Neuron 2 Protein
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.ejhg.5200599
ER  -