Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients

BACKGROUND: Lipoid proteinosis (LP) is known to be resulted from mutations of the extracellular matrix protein 1 gene (ECM1). However, no effective or sustained therapeutic methods to alleviate LP symptoms have been reported. METHODS: Here, we report a 12-year-old boy with LP and recurrent anaphylax...

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Detalles Bibliográficos
Autores principales: Zhang, Rong, Liu, Yang, Xue, Yang, Wang, Yinan, Wang, Xinwen, Shi, Songtao, Cai, Tao, Wang, Qintao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021827/
https://www.ncbi.nlm.nih.gov/pubmed/24708644
http://dx.doi.org/10.1186/1479-5876-12-85

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021827/
https://www.ncbi.nlm.nih.gov/pubmed/24708644
http://dx.doi.org/10.1186/1479-5876-12-85

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