Carrier screening for spinal muscular atrophy
- PMID: 18941424
- PMCID: PMC3110347
- DOI: 10.1097/GIM.0b013e318188d069
Carrier screening for spinal muscular atrophy
References
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- Claire Altman Heine Foundation Inc., for the Prevention of Spinal Muscular Atrophy. Available at: www.prevent sma.org
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- Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165 - PubMed
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- Mailman MD, Heinz JW, Papp AC, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002;4:20-26 - PubMed
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- Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet 2002;111:477-500 - PubMed
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