Article ID Journal Published Year Pages File Type
6113031 The Journal of Molecular Diagnostics 2011 4 Pages PDF
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.

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