Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. [electronic resource]
Producer: 19970710Description: 1411-22 p. digitalISSN:- 0002-9297
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Cloning, Molecular
- Cyclic AMP Response Element-Binding Protein
- Cystic Fibrosis Transmembrane Conductance Regulator -- genetics
- DNA -- blood
- DNA Primers
- Exons
- Female
- Gene Dosage
- Genetic Carrier Screening
- Humans
- Male
- Motor Neurons -- pathology
- Muscular Atrophy, Spinal -- diagnosis
- Nerve Tissue Proteins -- genetics
- Nucleic Acid Heteroduplexes -- genetics
- Pedigree
- Polymerase Chain Reaction
- RNA-Binding Proteins
- Risk Assessment
- SMN Complex Proteins
- Spinal Cord -- pathology
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein
- Transcription, Genetic
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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