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Journal of Investigative Dermatology
Volumn 119, Issue 5, 2002, Pages 1202-1203
Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: Lack of genotype-phenotype correlation and implications for mutation detection strategies [1]
Author keywords

[No Author keywords available]
Indexed keywords

ARGININE; DNA; PROTEIN P63;
EID: 0036445631     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2002.19526.x     Document Type: Letter
Times cited : (11)
References (9)
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    • (1995) J Med Genet , vol.32 , pp. 716-723
    • Buss, P.W.1    Hughes, H.E.2    Clarke, A.3
  • 2
    • 0032744735 scopus 로고    scopus 로고
    • Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
    • Celli J, Duijf P, Hamel BCJ, et al: Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143-153, 1999
    • (1999) Cell , vol.99 , pp. 143-153
    • Celli, J.1    Duijf, P.2    Hamel, B.C.J.3
  • 3
    • 0033060788 scopus 로고    scopus 로고
    • p53 mutation database. A relational database to compile and analyze p53 mutations in human tumors and cell lines
    • Hernandez-Boussard T, Rodriguez-Tome P, Montesano R, Hainaut PIARC: p53 mutation database. A relational database to compile and analyze p53 mutations in human tumors and cell lines. Hum Mutat 14:1-8, 1999
    • (1999) Hum Mutat , vol.14 , pp. 1-8
    • Hernandez-Boussard, T.1    Rodriguez-Tome, P.2    Montesano, R.3    Hainaut, P.I.A.R.C.4
  • 4
    • 0035253507 scopus 로고    scopus 로고
    • Hay-Wells syndrome is caused by mis-sense mutations in the SAM domain of p63
    • McGrath JA, Duijf P, Doetsch V, et al: Hay-Wells syndrome is caused by mis-sense mutations in the SAM domain of p63. Hum Mol Genet 10:221-229, 2001
    • (2001) Hum Mol Genet , vol.10 , pp. 221-229
    • McGrath, J.A.1    Duijf, P.2    Doetsch, V.3
  • 5
    • 0029974761 scopus 로고    scopus 로고
    • The EEC syndrome: A literature study
    • Roelfsema NM, Cobben JM: The EEC syndrome: A literature study. Clin Dysmorphol 5:115-127, 1996
    • (1996) Clin Dysmorphol , vol.5 , pp. 115-127
    • Roelfsema, N.M.1    Cobben, J.M.2
  • 6
    • 0036207517 scopus 로고    scopus 로고
    • EEC syndrome. Heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis
    • South AP, Ashton GH, Willoughby C, et al: EEC syndrome. Heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis. Br J Dermatol 146:216-220, 2002
    • (2002) Br J Dermatol , vol.146 , pp. 216-220
    • South, A.P.1    Ashton, G.H.2    Willoughby, C.3
  • 7
    • 0034892604 scopus 로고    scopus 로고
    • p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    • van Bokhoven H, Hamel BC, Bamshad M, et al: p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 69:481-492, 2001
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  • 8
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    • Heterozygous germline mis-sense mutation in the p63 gene underlying EEC syndrome
    • Wessagowit V, Mellerio JE, Pembroke AC, McGrath JA: Heterozygous germline mis-sense mutation in the p63 gene underlying EEC syndrome. Clin Exp Dermatol 5:441-443, 2000
    • (2000) Clin Exp Dermatol , vol.5 , pp. 441-443
    • Wessagowit, V.1    Mellerio, J.E.2    Pembroke, A.C.3    McGrath, J.A.4
  • 9
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.