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

RATIONALE: Epidermolysis bullosa (EB) refers to a group of rare inherited mechanobullous disorders that present with great clinical and genetic heterogeneity. Its severity ranges from mild blistering to life-threatening. However, the clinical symptoms of different types of EB overlap significantly,...

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Dades bibliogràfiques
Publicat a:Medicine (Baltimore)
Autors principals: Wang, Hairong, Yang, Yun, Zhou, Jieqiong, Cao, Jiangxia, He, Xuelian, Li, Long, Gao, Shuyang, Mao, Bing, Tian, Ping, Zhou, Aifen
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer Health 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6310585/
https://ncbi.nlm.nih.gov/pubmed/30544381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000013225
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