Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing

By Nagai Makoto   Nagai Hiroshi   Tominaga Chiharu   Sakaguchi Yoshiko   Jitsukawa Orie   Ohgo Noriko   Nishigori Chikako   Yamanishi Kiyofumi  

Acta Dermato-Venereologica, Vol. 95, Iss. 5, 2015-05 ,pp. : 629-631

Medical Journals Limited

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Glycine Substitution Mutations in the COL7A1 Gene: Implications for Inheritance of Dystrophic Epidermolysis Bullosa – Dominant vs. Recessive

By Uitto Jouni  

Acta Dermato-Venereologica, Vol. 91, Iss. 3, 2011-05 ,pp. : 259-261

Medical Journals Limited

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Bullous Dermolysis of the Newborn and Dystrophic Epidermolysis Bullosa Pruriginosa within the Same Family: Two Phenotypes Associated with a COL7A1 Mutation

By Murase Kana   Kanoh Hiroyuki   Ishii Norito   Hashimoto Takashi   Nakano Hajime   Sawamura Daisuke   Seishima Mariko  

Acta Dermato-Venereologica, Vol. 91, Iss. 6, 2011-11 ,pp. : 730-731

Medical Journals Limited

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Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa

By Kim J.   Kim S.-C.   Yasukawa K.   Shimizu H.  

Journal of Dermatological Science, Vol. 33, Iss. 3, 2003-12 ,pp. : 180-183

Elsevier

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Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations

By Murata Takayuki  

Archives of Dermatological Research, Vol. 295, Iss. 10, 2004-03 ,pp. : 442-447

Springer Publishing Company

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