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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 326 - 330 (5page)
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초록· 키워드
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Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency in various populations has become important for developing screening programs for this disease. In total, 1,581 anonymous DNA samples from an umbilical cord blood bank were tested for SMN1 and SMN2 gene copies using a multiplex ligation-dependent probe amplification assay. Twenty-nine of the 1,581 newborns [1.83%; 95% confidence interval (CI), 1.25–2.66%] were SMA carriers with one copy of SMN1, and no homozygous SMN1 deletion was detected. The carrier frequency in this population was estimated to be 1,834 per 100,000 (95% CI, 1,254– 2,659) or 1 in 55 (95% CI, 1/79–1/38). Our data indicate that SMA carriers are not uncommon in the Korean population and may serve as a reference for designing a population screening program in Korea.
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Prior TW / Spinal Muscular Atrophy
Lunn MR / 2008 / Spinal muscular atrophy / Lancet 371:2120~2133
Finkel RS / 2017 / Nusinersen versus sham control in infantile-onset spinal muscular atrophy / N Engl J Med 377:1723~1732
Little SE / 2010 / The cost-effectiveness of prenatal screening for spinal muscular atrophy / Am J Obstet Gynecol 202:253.e1~253.e7
Zhang L / 2019 / Population genomic screening of all young adults in a health-care system : a cost-effectiveness analysis / Genet Med 21:1958~1968
Lunn MR / 2008 / Spinal muscular atrophy / Lancet 371:2120~2133
Finkel RS / 2017 / Nusinersen versus sham control in infantile-onset spinal muscular atrophy / N Engl J Med 377:1723~1732
Little SE / 2010 / The cost-effectiveness of prenatal screening for spinal muscular atrophy / Am J Obstet Gynecol 202:253.e1~253.e7
Zhang L / 2019 / Population genomic screening of all young adults in a health-care system : a cost-effectiveness analysis / Genet Med 21:1958~1968
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