Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. [electronic resource]
- European journal of human genetics : EJHG Jan 2012
- 27-32 p. digital
Publication Type: Journal Article
1476-5438
10.1038/ejhg.2011.134 doi
Adult DNA Copy Number Variations Ethnicity--genetics Female Fetus--cytology Gene Frequency Genetic Carrier Screening--methods Genetic Counseling Genetic Testing--methods Genotype Humans Male Muscular Atrophy, Spinal--diagnosis Mutation Prenatal Diagnosis--methods Reproducibility of Results Sequence Analysis, DNA Survival of Motor Neuron 1 Protein--genetics United States--epidemiology