Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? [electronic resource]
Producer: 20050509Description: 215-23 p. digitalISSN:- 0022-3069
- Age Factors
- Alternative Splicing
- Blotting, Western -- methods
- Cyclic AMP Response Element-Binding Protein -- genetics
- Densitometry -- methods
- Exons
- Female
- Fibroblasts -- metabolism
- Gene Expression -- genetics
- Gene Expression Regulation, Developmental -- genetics
- Humans
- Immunohistochemistry -- methods
- Kidney -- metabolism
- Male
- Muscles -- cytology
- Muscular Atrophy, Spinal -- metabolism
- Nerve Tissue Proteins -- genetics
- Pregnancy
- RNA, Messenger -- biosynthesis
- RNA-Binding Proteins -- genetics
- Reverse Transcriptase Polymerase Chain Reaction -- methods
- SMN Complex Proteins
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein
- alpha-Fetoproteins
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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