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Volumn 149, Issue 6, 2009, Pages 1319-1322

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON REGULATORY FACTOR 6;

EID: 66349096912     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32849     Document Type: Letter
Times cited : (15)

References (14)
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    • Baralle D, Baralle M. 2005. Splicing in action: Assessing disease causing sequence changes. J Med Genet 42:737-748. (Pubitemid 41475248)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.10 , pp. 737-748
    • Baralle, D.1    Baralle, M.2
  • 7
    • 33846934728 scopus 로고    scopus 로고
    • Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
    • DOI 10.1002/humu.20400
    • Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN. 2007. Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences formRNA splicing. Hum Mutat 28:150-158. (Pubitemid 46233312)
    • (2007) Human Mutation , vol.28 , Issue.2 , pp. 150-158
    • Krawczak, M.1    Thomas, N.S.T.2    Hundrieser, B.3    Mort, M.4    Wittig, M.5    Hampe, J.6    Cooper, D.N.7
  • 9
    • 0034614010 scopus 로고    scopus 로고
    • Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genes
    • Otto PA, Maestrelli SR. 2000. Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant conditions and the calculation of recurrence risks for their offspring. I. Autosomal dominant genes. Am J Med Genet 95:43-48.
    • (2000) Am J Med Genet , vol.95 , pp. 43-48
    • Otto, P.A.1    Maestrelli, S.R.2
  • 11
    • 0030587440 scopus 로고    scopus 로고
    • Refinement of the Van der Woude gene location and construction of a 3.5- Mb YAC contig and STS map spanning the critical region in 1q32-q41
    • DOI 10.1006/geno.1996.0496
    • Schutte BC, Sander A, Malik M, Murray JC. 1996. Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STSmapspanning the critical region in 1q32-q41. Genomics 36:507-514. (Pubitemid 26321973)
    • (1996) Genomics , vol.36 , Issue.3 , pp. 507-514
    • Schutte, B.C.1    Sander, A.2    Malik, M.3    Murray, J.C.4
  • 12
    • 0034028899 scopus 로고    scopus 로고
    • MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
    • DOI 10.1038/74155
    • van den Boogaard M-JH, Dorland M, Beemer FA. van Amstel HK. 2000. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 24:342-343. (Pubitemid 30187429)
    • (2000) Nature Genetics , vol.24 , Issue.4 , pp. 342-343
    • Van Den Boogaard, M.-J.H.1    Dorland, M.2    Beemer, F.A.3    Van Amstel, H.K.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.