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Volumn 17, Issue 3, 2006, Pages 360-362

Genetics and molecular biology: Single nucleotide polymorphism associations and their functional significance

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; APOLIPOPROTEIN A2; BINDING PROTEIN; CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LOXIN; OXIDIZED LOW DENSITY LIPOPROTEIN; OXIDIZED LOW DENSITY LIPOPROTEIN RECEPTOR 1; PROTEIN; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

EID: 33646861004     PISSN: 09579672     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mol.0000226127.40500.0c     Document Type: Editorial
Times cited : (6)

References (15)
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  • 2
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  • 3
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    • Baralle, D.1    Baralle, M.2
  • 4
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    • Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
    • USA
    • Pagani F, Raponi M, Baralle FE. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci USA 2005; 102:6368-6372.
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  • 5
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    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 2003; 34:460-463.
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  • 6
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    • Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002; 30:377-384.
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  • 7
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  • 9
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    • Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate
    • Graham CA, Mcllhatton BP, Kirk CW, et al. Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. Atherosclerosis 2005; 182:331-z340.
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  • 11
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  • 12
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    • Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction
    • Mango R, Clementi F, Borgiani P, et al. Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction. J Med Genet 2003; 40:933-936.
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    • Mango, R.1    Clementi, F.2    Borgiani, P.3
  • 13
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.