Literature DB >> 26632638

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

Takuya Takeichi1, Kazumitsu Sugiura, Chao-Kai Hsu, Toshifumi Nomura, Hiroyuki Takama, Michael A Simpson, Hiroshi Shimizu, John A McGrath, Masashi Akiyama.   

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Year:  2016        PMID： 26632638     DOI： 10.2340/00015555-2307

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


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  2 in total

1.  A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.

Authors:  Yajuan Gao; Qianli Zhang; Shiyu Zhang; Lu Yang; Yaping Liu; Yuehua Liu; Tao Wang
Journal:  Front Genet       Date:  2022-05-23       Impact factor: 4.772

2.  Erythrokeratodermia variabilis with hypertrichosis on the lesions.

Authors:  Jian-Ping Wu; Hong-Song Ge; Chao Yang
Journal:  Chin Med J (Engl)       Date:  2020-02-20       Impact factor: 2.628
  2 in total

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