Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.
Sossi, V
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. [electronic resource] - European journal of human genetics : EJHG Feb 2001 - 113-20 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1018-4813
10.1038/sj.ejhg.5200599 doi
Adult
Aminoglycosides
Anti-Bacterial Agents--pharmacology
Blotting, Southern
Blotting, Western
Child, Preschool
Cloning, Molecular
Cyclic AMP Response Element-Binding Protein
DNA Primers--chemistry
Exons
Female
Fibroblasts--drug effects
Fluorescent Antibody Technique
Genotype
Humans
In Situ Hybridization, Fluorescence
Male
Muscular Atrophy, Spinal--genetics
Mutation
Nerve Tissue Proteins--genetics
Protein Isoforms
RNA-Binding Proteins
Reverse Transcriptase Polymerase Chain Reaction
SMN Complex Proteins
Sequence Analysis, DNA
Sequence Deletion
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. [electronic resource] - European journal of human genetics : EJHG Feb 2001 - 113-20 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1018-4813
10.1038/sj.ejhg.5200599 doi
Adult
Aminoglycosides
Anti-Bacterial Agents--pharmacology
Blotting, Southern
Blotting, Western
Child, Preschool
Cloning, Molecular
Cyclic AMP Response Element-Binding Protein
DNA Primers--chemistry
Exons
Female
Fibroblasts--drug effects
Fluorescent Antibody Technique
Genotype
Humans
In Situ Hybridization, Fluorescence
Male
Muscular Atrophy, Spinal--genetics
Mutation
Nerve Tissue Proteins--genetics
Protein Isoforms
RNA-Binding Proteins
Reverse Transcriptase Polymerase Chain Reaction
SMN Complex Proteins
Sequence Analysis, DNA
Sequence Deletion
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein