Literature DB >> 28707324

High concordance between clinical diagnosis of epidermolysis bullosa and immunofluorescence with a small, well-matched antibody panel.

Irene Meester1, Olga Igoucheva2, Vitali Alexeev2, Andrew South2, Maria Guadalupe Moreno-Treviño1, Julio Cesar Salas-Alanis1,3.   

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Year:  2017        PMID： 28707324     DOI： 10.1111/ajd.12665

Source DB:  PubMed          Journal:  Australas J Dermatol        ISSN： 0004-8380            Impact factor:   2.875


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  1 in total

1.  Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.

Authors:  Li-Min Cui; Jian-Ye Jiang; Ning-Ning Hu; Hong-En Zou; Bao-Zhen Zhao; Cong-Ying Han; Kai Yang; Yi-Peng Wang; Huan-Xia Xing
Journal:  Mol Genet Genomic Med       Date:  2022-02-28       Impact factor: 2.473
  1 in total

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