Literature DB >> 25425313

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

Makoto Nagai1, Hiroshi Nagai, Chiharu Tominaga, Yoshiko Sakaguchi, Orie Jitsukawa, Noriko Ohgo, Chikako Nishigori, Kiyofumi Yamanishi.   

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Year:  2015        PMID： 25425313     DOI： 10.2340/00015555-2019

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  1 in total

1.  Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa.

Authors:  Hairong Wang; Yun Yang; Jieqiong Zhou; Jiangxia Cao; Xuelian He; Long Li; Shuyang Gao; Bing Mao; Ping Tian; Aifen Zhou
Journal:  Medicine (Baltimore)       Date:  2018-12       Impact factor: 1.817
  1 in total

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