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

作者：Muralidharan Kasinathan; Wilson Robert B; Ogino Shuji; Nagan Narasimhan; Curtis Christine; Schrijver Iris^*

来源：Journal of Molecular Diagnostics, 2011, 13(1): 3-6.

DOI：10.1016/j.jmoldx.2010.11.012

Spinal muscular atrophy is a common and of ten 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. (J Mol Diagn 2011, 13: 3-6; DOI: 10.1016/j.jmoldx.2010.11.012)

• 出版日期2011-1