Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Sugarman, Elaine A

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