Genetic risk assessment in carrier testing for spinal muscular atrophy. [electronic resource]
- American journal of medical genetics Jul 2002
- 301-7 p. digital
Publication Type: Journal Article
0148-7299
10.1002/ajmg.10425 doi
Alleles Cyclic AMP Response Element-Binding Protein DNA--genetics Gene Dosage Gene Frequency Genetic Carrier Screening--methods Genetic Testing Genotype Humans Muscular Atrophy, Spinal--classification Mutation Nerve Tissue Proteins--genetics RNA-Binding Proteins Risk Assessment SMN Complex Proteins Survival of Motor Neuron 1 Protein