Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing

Aortopathy represents an important cause of mortality in industrialized countries, with a number of genes identified as predispose factors. It can be difficult to identify the genetic lesions underlying this disorder, particularly when the phenotype is atypical. The present study performed targeted...

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Detalles Bibliográficos
Autores principales: Zhang, Wenwen, Han, Qian, Zhou, Min, Ran, Feng, Qiao, Tong, Yi, Long, Liu, Changjian, Liu, Zhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364830/
https://www.ncbi.nlm.nih.gov/pubmed/28035354
http://dx.doi.org/10.3892/mmr.2016.6082

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