Published in Nature on April 19, 1990
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A (1997) 4.70
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29
Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems. J Cell Biol (1999) 2.93
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When is a deletion not a deletion? When it is converted. Am J Hum Genet (1997) 2.38
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet (1995) 2.33
SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. Proc Natl Acad Sci U S A (1999) 2.18
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Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet (1998) 1.56
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The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am J Hum Genet (1997) 1.41
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Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet (1996) 1.10
Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum Genet (1994) 1.10
Prenatal prediction of spinal muscular atrophy. J Med Genet (1992) 1.09
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Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. Am J Hum Genet (1994) 1.01
Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers. Am J Hum Genet (1994) 1.01
Gene deletions in spinal muscular atrophy. J Med Genet (1996) 0.99
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