New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/5201288.pdf
Reference43 articles.
1. Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB : Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet 2002; 110: 301–307.
2. Lefebvre S, Burglen L, Reboullet S et al: Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155–165.
3. Burglen L, Lefebvre S, Clermont O et al: Structure and organization of the human survival motor neurone (SMN) gene. Genomics 1996; 32: 479–482.
4. Monani UR, Lorson CL, Parsons DW et al: A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999; 8: 1177–1183.
5. Lorson CL, Hahnen E, Androphy EJ, Wirth B : A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999; 96: 6307–6311.
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