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Population carrier screening for spinal muscular atrophy a position statement of the association for molecular
Kasinathan Muralidharan1, Robert B Wilson, Shuji Ogino
1Clinical Practice Committee of the Association for Molecular Pathology (AMP), Chantilly, Virginia, USA.
The Journal of Molecular Diagnostics : JMD
|January 14, 2011
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.
