Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

M.J. Arin; G. Grimberg; H. Schumann; H. De Almeida Jr; Y.-R. Chang; G. Tadini; J. Kohlhase; T. Krieg; L. Bruckner-Tuderman; C. Has

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Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

机译：鉴定53例单纯性表皮松解患者新的已知KRT5和KRT14突变：基因型与表型之间的相关性

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SummaryBackground Basal epidermolysis bullosa simplex (EBS) is a hereditary skin blistering disorder resulting in most cases from missense mutations in the keratin 5 (KRT5) or keratin 14 (KRT14) genes.

机译：总结背景基础单纯性大疱性表皮松解症（EBS）是一种遗传性皮肤水疱性疾病，在大多数情况下是由角蛋白5（KRT5）或角蛋白14（KRT14）基因的错义突变引起的。

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来源
《British Journal of Dermatology》 |2010年第6期|p.1365-1369|共5页
作者
M.J. Arin; G. Grimberg; H. Schumann; H. De Almeida Jr; Y.-R. Chang; G. Tadini; J. Kohlhase; T. Krieg; L. Bruckner-Tuderman; C. Has;
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作者单位

Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50924 Cologne, Germany;

Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50924 Cologne, Germany;

Department of Dermatology, University of Freiburg, Freiburg, Germany;

Department of Dermatology, University of Pelotas, Pelotas, Brazil;

Department of Dermatology, University of Freiburg, Freiburg, Germany;

Department of Dermatology, University of Milano, Germany;

Center for Human Genetics, Freiburg, Germany;

Department of Dermatology, University of Cologne, Kerpener Strasse 62, 50924 Cologne, Germany;

Department of Dermatology, University of Freiburg, Freiburg, Germany|Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany;

Department of Dermatology, University of Freiburg, Freiburg, Germany;

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正文语种 eng
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关键词
epidermolysis bullosa; genodermatosis; keratin; mutation;

机译：大疱表皮松解;皮肤皮肤病;角蛋白;突变;

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专利

1. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype [J] . M.J. Arin, G. Grimberg, H. Schumann, British Journal of Dermatology . 2010,第6期

机译：鉴定53例单纯性表皮松解患者新的已知KRT5和KRT14突变：基因型与表型之间的相关性
2. Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation [J] . Wertheim-Tysarowska K., Odak M., Giza A., Journal of Applied Genetics . 2016,第2期

机译：波兰表皮松解性大疱性单纯疱疹患者KRT5和KRT14基因的新型偶发和复发突变：流行病学和基因型-表型相关性的进一步见解。
3. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. [J] . Pfendner EG, Sadowski SG, Uitto J The Journal of investigative dermatology. . 2005,第2期

机译：大疱表皮松解症：KRT5和KRT14基因的复发和从头突变，表型/基因型相关性以及对遗传咨询和产前诊断的意义。
4. GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH FIBRILLIN-1 GENE MUTATIONS [C] . Christian Baumgartner, Daniela Baumgartner, Martin Eberle, Biomedical Engineering . 2005

机译：Fibrillin-1基因突变患者的基因型与表型相关性
5. An incompletely penetrant COL7A1 mutation causes dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa. [D] . Yang, Catherine. 2012

机译：渗透性不完全的COL7A1突变会导致营养不良性大疱性表皮松解和大疱性表皮松解。
6. Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation [O] . K. Wertheim-Tysarowska, M. Ołdak, A. Giza, -1

机译：波兰表皮松解性单纯疱疹患者KRT5和KRT14基因的新型偶发和复发突变：对流行病学和基因型-表型相关性的进一步了解
7. Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis [O] . Pfendner Ellen G., Sadowski Sara G., Uitto Jouni 2005

机译：表皮松解性大疱性单纯疱疹：KRT5和KRT14基因的复发和从头突变，表型/基因型相关性，以及遗传咨询和产前诊断的意义。

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

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