Population Carrier Screening for Spinal Muscular Atrophy a Position Statement of the Association for Molecular Pathology
Wilson, Robert B
The Journal of molecular diagnostics : JMD 2011 Jan; 13(1): 3-6
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.
Showing items related by title, author, creator and subject.
Gitlin, Jonathan M; Fischbeck, Kenneth; Crawford, Thomas O; Cwik, Valerie; Fleischman, Alan; Gonye, Karla; Heine, Deborah; Hobby, Kenneth; Kaufmann, Petra; Keiles, Steven; MacKenzie, Alex; Musci, Thomas; Prior, Thomas; Lloyd-Puryear, Michele; Sugarman, Ela (2010-10)Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional ...