Population screening and cascade testing for carriers of SMA. [electronic resource]
- European journal of human genetics : EJHG Jul 2007
- 759-66 p. digital
Publication Type: Journal Article; Validation Study
1018-4813
10.1038/sj.ejhg.5201821 doi
Australia--epidemiology Cohort Studies Cyclic AMP Response Element-Binding Protein--genetics Female Gene Dosage Gene Frequency Genetic Carrier Screening--methods Genetic Linkage Genetic Testing--methods Humans Male Muscular Atrophy, Spinal--diagnosis Nerve Tissue Proteins--genetics New Zealand--epidemiology Polymerase Chain Reaction RNA-Binding Proteins--genetics SMN Complex Proteins Survival of Motor Neuron 1 Protein