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Volumn 13, Issue 12, 2011, Pages 996-997

Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSINOGEN;

EID: 82955174751     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31823c49a2     Document Type: Note
Times cited : (19)

References (11)
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  • 2
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    • Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
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    • Grody, W.W.1    Cutting, G.R.2    Klinger, K.W.3    Richards, C.S.4    Watson, M.S.5    Desnick, R.J.6
  • 4
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    • The Cystic Fibrosis mutation "arms race": When less is more
    • DOI 10.1097/GIM.0b013e318159a331, PII 0012581720071100000002
    • Grody WW, Cutting GR, Watson MS. The cystic fibrosis mutation "arms race": when less is more. Genet Med 2007;9:739-744. (Pubitemid 350129408)
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    • Grody, W.W.1    Cutting, G.R.2    Watson, M.S.3
  • 5
    • 82955162710 scopus 로고    scopus 로고
    • The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: P. L997F, further genotype/phenotype correlation data
    • Strom CM, Redman JB, Peng M. The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p. L997F, further genotype/phenotype correlation data. Genet Med 2011;13:1042-1044.
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    • Strom, C.M.1    Redman, J.B.2    Peng, M.3
  • 6
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    • FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States
    • Hantash FM, Goos DM, Crossley B, et al. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genet Med 2011;13:39-45.
    • (2011) Genet Med , vol.13 , pp. 39-45
    • Hantash, F.M.1    Goos, D.M.2    Crossley, B.3
  • 8
    • 0035746675 scopus 로고    scopus 로고
    • ACMG Factor V. Leiden Working Group. American College of Medical Genetics consensus statement on factor V Leiden mutation testing
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    • ACMG Working Group on Pharmacogenetic Testing of CYP2C9, VKORC1 Alleles for Warfarin Use. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.