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. 2011 Jan;13(1):3-6.
doi: 10.1016/j.jmoldx.2010.11.012. Epub 2010 Dec 23.

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology

Kasinathan Muralidharan  1 , Robert B Wilson, Shuji Ogino, Narasimhan Nagan, Christine Curtis, Iris Schrijver
Affiliations

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology

Kasinathan Muralidharan et al. J Mol Diagn. 2011 Jan.

Abstract

Spinal muscular atrophy is a common and often fatal autosomal recessive disorder for which carrier screening is available. The Association for Molecular Pathology has evaluated recent opinions regarding population carrier screening, reviewed the current literature, and developed a position statement that includes specific recommendations addressing both diagnostic and practical issues that affect implementation.

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References

    1. Ogino S., Wilson R.B. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn. 2004;111:477–500. - PubMed
    1. Prior T.W. Perspective and diagnostic considerations in spinal muscular atrophy. Genet Med. 2010;12:145–152. - PubMed
    1. Lunn M.R., Wang C.H. Spinal muscular atrophy. Lancet. 2008;371:220–233. - PubMed
    1. Prior T.W. Carrier screening for spinal muscular atrophy. Gen Med. 2008;10:840–842. - PMC - PubMed
    1. Ogino S., Wilson R.B., Gold B. New insights into the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet. 2004;12:1015–1023. - PubMed

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