Population screening and cascade testing for carriers of SMA.

Smith, Melanie

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