PLoS ONE · 2011 · 104 citations · 34 references
The main benefit of SMA carrier screening is to reduce the burden associated with giving birth to an affected child. In this study, we determined the carrier frequency and genetic risk and provided carrier couples with genetic services, knowledge, and genetic counseling.
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Identification and characterization of a spinal muscular atrophy-determining gene
Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 3.9K citations · Full text
Markus Feldkötter, Verena Schwarzer, Radu Wirth et al. · The American Journal of Human Genetics · 2002 · 994 citations · Full text
Patricia McAndrew, D. Williams Parsons, Louise R. Simard et al. · The American Journal of Human Genetics · 1997 · 529 citations · Full text