A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. [electronic resource]
Producer: 20080609Description: 146-9 p. digitalISSN:- 0960-8966
- Cyclic AMP Response Element-Binding Protein -- genetics
- Fatal Outcome
- Genetic Testing -- methods
- Humans
- Infant
- Male
- Muscular Atrophy, Spinal -- diagnosis
- Nerve Tissue Proteins -- genetics
- Point Mutation
- RNA Splicing -- genetics
- RNA-Binding Proteins -- genetics
- Reproducibility of Results
- Reverse Transcriptase Polymerase Chain Reaction -- standards
- SMN Complex Proteins
- Survival of Motor Neuron 1 Protein
No physical items for this record
Publication Type: Case Reports; Journal Article
There are no comments on this title.
Log in to your account to post a comment.