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Volumn 15, Issue 1, 2005, Pages 73-77

A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; FAMILY HISTORY; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INFANT; INFORMED CONSENT; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; TOOTH RADIOGRAPHY; X CHROMOSOME LINKED DISORDER;

EID: 13444301205     PISSN: 09607439     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-263X.2005.00573.x     Document Type: Article
Times cited : (8)

References (10)
  • 2
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    • (1996) Nature Genetics , vol.13 , pp. 409-416
    • Kere, J.1    Srivastava, A.K.2    Montonen, O.3
  • 3
    • 0032231350 scopus 로고    scopus 로고
    • Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
    • Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. American Journal of Human Genetics 1998; 63: 380-389.
    • (1998) American Journal of Human Genetics , vol.63 , pp. 380-389
    • Monreal, A.W.1    Zonana, J.2    Ferguson, B.3
  • 4
    • 0031716740 scopus 로고    scopus 로고
    • The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encoded ectodysplasin-A with deletion mutations in collagenous repeats
    • Bayes M, Hartung AJ, Ezer S et al. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encoded ectodysplasin-A with deletion mutations in collagenous repeats. Human Molecular Genetics 1998; 7: 1661-1669.
    • (1998) Human Molecular Genetics , vol.7 , pp. 1661-1669
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  • 5
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    • The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain
    • Copley RR. The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain. Journal of Molecular Medicine 1999; 77: 361-363.
    • (1999) Journal of Molecular Medicine , vol.77 , pp. 361-363
    • Copley, R.R.1
  • 6
    • 0031980020 scopus 로고    scopus 로고
    • Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications
    • Ferguson BM, Thomas NS, Munoz F, Morgan D, Clarke A, Zonana J. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. Journal of Medical Genetics 1998; 35: 112-115.
    • (1998) Journal of Medical Genetics , vol.35 , pp. 112-115
    • Ferguson, B.M.1    Thomas, N.S.2    Munoz, F.3    Morgan, D.4    Clarke, A.5    Zonana, J.6
  • 7
    • 0031892339 scopus 로고    scopus 로고
    • A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
    • Hertz JM, Norgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N. A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia. Clinical Genetics 1998; 53: 205-209.
    • (1998) Clinical Genetics , vol.53 , pp. 205-209
    • Hertz, J.M.1    Norgaard Hansen, K.2    Juncker, I.3    Kjeldsen, M.4    Gregersen, N.5
  • 8
    • 0032457229 scopus 로고    scopus 로고
    • A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia
    • Yotsumoto S, Fukumaru S, Matsushita S et al. A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. Journal of Investigative Dermatology 1998; 111: 1246-1247.
    • (1998) Journal of Investigative Dermatology , vol.111 , pp. 1246-1247
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  • 9
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    • X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T>G (Leu55Arg)
    • Martinez F, Millan JM, Orellana C, Prieto F. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T>G (Leu55Arg). Journal of Investigative Dermatology 1999; 113: 285-286.
    • (1999) Journal of Investigative Dermatology , vol.113 , pp. 285-286
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  • 10
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    • A novel arginine→Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia
    • Aoki N, Ito K, Tachibana T, Ito M. A novel arginine→Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia. Journal of Investigative Dermatology 2000; 115: 329-330.
    • (2000) Journal of Investigative Dermatology , vol.115 , pp. 329-330
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.