Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene. [electronic resource]
Producer: 20050712Description: 309-13 p. digitalISSN:- 1018-4813
- Chromosomes, Human, Pair 5 -- genetics
- Cyclic AMP Response Element-Binding Protein -- genetics
- Female
- Gene Deletion
- Genetic Carrier Screening -- methods
- Genetic Counseling
- Heterozygote
- Humans
- Male
- Mosaicism
- Nerve Tissue Proteins -- genetics
- Pedigree
- Polymerase Chain Reaction
- RNA-Binding Proteins -- genetics
- SMN Complex Proteins
- Spinal Muscular Atrophies of Childhood -- genetics
- Survival of Motor Neuron 1 Protein
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Publication Type: Journal Article
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