Population Carrier Screening for Spinal Muscular Atrophy: A Position Statement of the Association for Molecular Pathology

• Autores: Narasimhan Nagan, Christine Curtis, Iris Schrijver, Kasinathan Muralidharan, Robert B. Wilson, Shuji Ogino
• Localización: The Journal of molecular diagnostics, ISSN 1525-1578, Vol. 13, Nº 1, 2011, págs. 3-6
• Idioma: inglés
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• Resumen

  • 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.