Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6113031 | The Journal of Molecular Diagnostics | 2011 | 4 Pages |
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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Authors
Kasinathan Muralidharan, Robert B. Wilson, Shuji Ogino, Narasimhan Nagan, Christine Curtis, Iris Schrijver,