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Primers for Exon-Specific Amplification of the KRT5 Gene: Identification of Novel and Recurrent Mutations in Epidermolysis Bullosa Simplex Patients

机译：外显子特异性扩增KRT5基因的引物：表皮松解性大疱性单纯疱疹患者的新型和复发突变的鉴定。

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Stephens Karen; Ehrlich Pamela; Weaver Molly; Le Rosalynda; Spencer Anne; Sybert Virginia P.;
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年度 1997
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1. 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。
2. 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。
3. Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation in KRT5 in four affected family members [J] . Nagai H., Oiso N., Tomida S., British Journal of Dermatology . 2016,第3期

机译：表皮溶解性大疱性单纯性，斑驳的色素沉着和非瘢痕性脱发：在四个受影响的家庭成员中鉴定出KRT5中复发性p.P25L突变
4. Epidermolysis Bullosa A Genetic Disease of Altered Cell Adhesion and Wound Healing, and the Possible Clinical Utility of Topically Applied Thymosin β4 [C] . JO-DAVID FINE International Symposiumn on Thymosins in Health and Disease; 20070321-24; Washington,DC(US) . 2007

机译：大表皮松解症一种细胞粘附和伤口愈合改变的遗传疾病，以及局部应用胸腺素β4的可能临床应用
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。

Primers for Exon-Specific Amplification of the KRT5 Gene: Identification of Novel and Recurrent Mutations in Epidermolysis Bullosa Simplex Patients

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