Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.
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ABSTRACT:
SUBMITTER: Muralidharan K
PROVIDER: S-EPMC3069864 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Publications
Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.
Muralidharan Kasinathan K Wilson Robert B RB Ogino Shuji S Nagan Narasimhan N Curtis Christine C Schrijver Iris I
The Journal of molecular diagnostics : JMD 20101223 1
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. ...[more]
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