A Multicopy Transcription-Repair Gene, BTF2p44, Maps to the SMA Region and Demonstrates SMA Associated Deletions

The childhood-onset spinal muscular atrophies are a clinically heterogeneous group of autosomal recessive disorders characterized by selective degeneration of the anterior horn cells with subsequent weakness and atrophy of limb muscles. The disease locus has been mapped to a region of chromosome 5q1...

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