Global ETD Search
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Showing 1 to 1 of 1 for “"SMARD1"”.
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OPTIMIZATION OF AAV9 GENE THERAPY FOR SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 USING IN VIVO DISEASE MODELS
… Atrophy with Respiratory Distress type 1 (SMARD1) is a rare autosomal recessive motoneuron disease with infantile onset, with an estimated incidence of 1/100’000. It is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene, which lead to a deficient amount of the …