Easy Method for Keratin 14 Gene Amplification to Exclude Pseudogene Sequences: New Keratin 5 and 14 Mutations in Epidermolysis Bullosa Simplex

被引：21

作者：

Glasz-Bona, Annamaria ^{[1
,2
]}

Medvecz, Marta ^{[1
,2
]}

Sajo, Rachel ^{[1
]}

Lepesi-Benko, Reka ^{[1
,2
]}

Tulassay, Zsolt ^{[2
]}

Katona, Maria ^{[1
]}

Hatvani, Zsofia ^{[1
]}

Blazsek, Antal ^{[1
,2
,3
]}

Karpati, Sarolta ^{[1
,2
,3
]}

机构：

[1] Semmelweis Univ, Dept Dermatol Venerol & Dermatooncol, H-1085 Budapest, Hungary

[2] Semmelweis Univ, Hungarian Acad Sci, Mol Med Res Grp, H-1085 Budapest, Hungary

[3] Semmelweis Univ, Szentagothai Reg Knowledge Ctr, H-1085 Budapest, Hungary

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2009年 / 129卷 / 01期

关键词：

POLYMERASE-CHAIN-REACTION; RECURRENT MUTATIONS; SPECTRUM; PHENOTYPE; DIAGNOSIS; DOMINANT; SUBTYPES; DISEASE; DOMAIN; KRT5;

D O I：

10.1038/jid.2008.223

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100227 [皮肤病学];

摘要：

引用

页码：229 / 231

页数：3

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