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Volumn 143, Issue 11, 2007, Pages 1246-1248

Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: Evidence for a mutational hot spot in the Indian hedgehog gene [2]

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN;

EID: 34249890222     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31728     Document Type: Letter
Times cited : (7)

References (16)
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    • Gao, B.1    He, L.2
  • 7
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    • DNA methylation and mutation
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    • (1993) Mutat Res , vol.285 , pp. 61-67
    • Holliday, R.1    Grigg, G.2
  • 8
    • 0037240892 scopus 로고    scopus 로고
    • Identification of a mutation in the Indian Hedgehog (II-IH) gene causing brachydactyly type A1 and evidence for a third locus
    • Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H. 2003. Identification of a mutation in the Indian Hedgehog (II-IH) gene causing brachydactyly type A1 and evidence for a third locus. J Med Genet 40:42-44.
    • (2003) J Med Genet , vol.40 , pp. 42-44
    • Kirkpatrick, T.J.1    Au, K.S.2    Mastrobattista, J.M.3    McCready, M.E.4    Bulman, D.E.5    Northrup, H.6
  • 10
    • 0016257644 scopus 로고
    • Heat-induced deamination of cytosine residues in deoxyribonucleic acid
    • Lindahl T, Nyberg B. 1974. Heat-induced deamination of cytosine residues in deoxyribonucleic acid. Biochemistry 13:3405-3410.
    • (1974) Biochemistry , vol.13 , pp. 3405-3410
    • Lindahl, T.1    Nyberg, B.2
  • 11
    • 77952883331 scopus 로고    scopus 로고
    • A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family
    • Liu M, Wang X, Cai Z, Tang Z, Cao K, Liang B, Ren X, Liu JY, Wang QK. 2006. A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. J Hum Genet 51:727-731.
    • (2006) J Hum Genet , vol.51 , pp. 727-731
    • Liu, M.1    Wang, X.2    Cai, Z.3    Tang, Z.4    Cao, K.5    Liang, B.6    Ren, X.7    Liu, J.Y.8    Wang, Q.K.9
  • 14
    • 33750584291 scopus 로고    scopus 로고
    • CpG methylation accounts for a recurrent mutation (c.1222C > T) in the human PAH gene
    • Murphy BC, Scriver CR, Singh SM. 2006. CpG methylation accounts for a recurrent mutation (c.1222C > T) in the human PAH gene. Hum Mutat 27:975.
    • (2006) Hum Mutat , vol.27 , pp. 975
    • Murphy, B.C.1    Scriver, C.R.2    Singh, S.M.3
  • 15
    • 29644436410 scopus 로고    scopus 로고
    • Mutagenesis at methylated CpG sequences
    • Pfeifer GP. 2006. Mutagenesis at methylated CpG sequences. Curr Top Microbiol Immunol 301:259-281.
    • (2006) Curr Top Microbiol Immunol , vol.301 , pp. 259-281
    • Pfeifer, G.P.1
  • 16
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    • Cholesterol modification of hedgehog signaling proteins in animal development
    • Porter JA, Young KE, Beachy PA. 1996. Cholesterol modification of hedgehog signaling proteins in animal development. Science 274:255-259.
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    • Porter, J.A.1    Young, K.E.2    Beachy, P.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.