SMN1
بیشتر بخوانید

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van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH (October 1996). "Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5". American Journal of Human Genetics. 59 (4): 834–8. PMC 1914786. PMID 8808598.
Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J (March 1996). "Structure and organization of the human survival motor neurone (SMN) gene". Genomics. 32 (3): 479–82. doi:10.1006/geno.1996.0147. PMID 8838816.
Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW (November 1996). "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 gene". Human Molecular Genetics. 5 (11): 1727–32. doi:10.1093/hmg/5.11.1727. PMID 8922999.
Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE (March 1997). "Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?". Human Molecular Genetics. 6 (3): 497–500. doi:10.1093/hmg/6.3.497. PMID 9147655.
Hahnen E, Schönling J, Rudnik-Schöneborn S, Raschke H, Zerres K, Wirth B (May 1997). "Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)". Human Molecular Genetics. 6 (5): 821–5. doi:10.1093/hmg/6.5.821. PMID 9158159.
Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH (August 1997). "The survival motor neuron protein in spinal muscular atrophy". Human Molecular Genetics. 6 (8): 1205–14. doi:10.1093/hmg/6.8.1205. PMID 9259265.
Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M (October 1997). "Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system". Human Molecular Genetics. 6 (11): 1961–71. doi:10.1093/hmg/6.11.1961. PMID 9302277.
Liu Q, Fischer U, Wang F, Dreyfuss G (September 1997). "The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins". Cell. 90 (6): 1013–21. doi:10.1016/S0092-8674(00)80367-0. PMID 9323129.
Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y (November 1997). "Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy". Nature. 390 (6658): 413–7. doi:10.1038/37144. PMID 9389483.
Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE (February 1998). "Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP". Genomics. 48 (1): 121–7. doi:10.1006/geno.1997.5141. PMID 9503025.
Francis JW, Sandrock AW, Bhide PG, Vonsattel JP, Brown RH (May 1998). "Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues". Proceedings of the National Academy of Sciences of the United States of America. 95 (11): 6492–7. doi:10.1073/pnas.95.11.6492. PMC 27826. PMID 9600994.
Gambardella A, Mazzei R, Toscano A, Annesi G, Pasqua A, Annesi F, Quattrone F, Oliveri RL, Valentino P, Bono F, Aguglia U, Zappia M, Vita G, Quattrone A (November 1998). "Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene". Annals of Neurology. 44 (5): 836–9. doi:10.1002/ana.410440522. PMID 9818944.
Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW (December 1998). "Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number". American Journal of Human Genetics. 63 (6): 1712–23. doi:10.1086/302160. PMC 1377643. PMID 9837824.