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J Mol Diagn. 2011 Jan;13(1):3-6. doi: 10.1016/j.jmoldx.2010.11.012. Epub 2010 Dec 23.

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.

Author information

  • 1Clinical Practice Committee of the Association for Molecular Pathology (AMP), Chantilly, Virginia, USA.

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.

PMID:
21227388
PMCID:
PMC3069864
DOI:
10.1016/j.jmoldx.2010.11.012
[PubMed - indexed for MEDLINE]
Free PMC Article
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