Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene. [electronic resource]
Producer: 20070227Description: 1037-41 p. digitalISSN:- 0197-3851
- Adult
- Cyclic AMP Response Element-Binding Protein -- genetics
- Female
- Genotype
- Humans
- Male
- Muscular Atrophy, Spinal -- diagnosis
- Mutation
- Nerve Tissue Proteins -- genetics
- Pedigree
- Polymerase Chain Reaction
- Pregnancy
- Preimplantation Diagnosis -- methods
- Prenatal Diagnosis
- RNA-Binding Proteins -- genetics
- SMN Complex Proteins
- Survival of Motor Neuron 1 Protein
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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