참고문헌 (19)

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8. 8 Monani UR Lorson CL Parsons DW Prior TW Androphy EJ Burghes AH McPherson JD 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 10369862 

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9. 9 Wirth B An Update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) Hum Mutat 2000 15 228 237 10679938 

10. 10 Shin S Park SS Hwang YS Lee KW Chung SG Lee YJ Park MH Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy J Korean Med Sci 2000 15 93 98 10719817 

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11. 11 McAndrew PE Parsons DW Simard LR Rochette C Ray PN Mendell JR Prior TW Burghes AH Identification of proximal spinal muscular atrophy carriers and patients by analyses of SMNT and SMNC copy number Am J Hum Genet 1997 60 1411 1422 9199562 

12. 12 Gérard B Ginet N Matthijs G Evrard P Baumann C Da Silva F Gerard-Blanluet M Mayer M Grandchamp B Elion J Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension Hum Mutat 2000 16 253 263 10980532 

13. 13 Scheffer H Cobben JM Mensink RG Stulp RP van der Steege G Buys CH SMA carrier testing-validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion Eur J Hum Genet 2000 8 79 86 10757638 

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14. 14 Martin Y Valero A del Castillo E Pascual SI Hernandez-Chico C Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 deletions Hum Genet 2002 110 257 263 11935338 

15. 15 Feldkötter M Schwarzer V Wirth R Wienker TF Wirth B Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy Am J Hum Genet 2002 70 358 368 11791208 

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16. 16 Anhuf D Eggermann T Rudnik-Schöneborn S Zerres K Determination of SMN1 and SMN2 copy number using TaqMan™, Technology Hum Mutat 2003 22 74 78 12815596 

17. 17 Moon J Yoon S Kim E Shin C Jo SA Jo I Lack of evidence for contribution of Glu298Asp (G894T) polymorphism of endothelial nitric oxide synthase gene to plasma nitric oxide levels Thromb Res 2002 107 129 134 12431478 

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18. 18 Aarskog NK Vedeler CA Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies Hum Genet 2000 107 494 498 11140948 

19. 19 Wirth B Herz M Wetter A Moskau S Hahnen E Rudnik-Schöneborn S Wienker T Zerres K Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling Am J Hum Genet 1999 64 1340 1356 10205265