au.\*:("MONANI, U. R")
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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2MONANI, U. R; LORSON, C. L; PARSONS, D. W et al.Human molecular genetics (Print). 1999, Vol 8, Num 7, pp 1177-1183, issn 0964-6906Article
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophyMONANI, U. R; SENDTNER, M; MORRIS, G. E et al.Human molecular genetics (Print). 2000, Vol 9, Num 3, pp 333-339, issn 0964-6906Article
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype : further evidence for SMN as the primary SMA-determining genePARSONS, D. W; MCANDREW, P. E; MONANI, U. R et al.Human molecular genetics (Print). 1996, Vol 5, Num 11, pp 1727-1732, issn 0964-6906Article