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Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly

Congenital heart disease (CHD) associated with polydactyly involves various genes. We aimed to identify variations from genes related to complex CHD with polydactyly and to investigate the cellular functions related to the mutations. Blood was collected from a complex CHD case with polydactyly, and...

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Detalles Bibliográficos
Autores principales: Chen, Huan‐Xin, Yang, Zi‐Yue, Hou, Hai‐Tao, Wang, Jun, Wang, Xiu‐Li, Yang, Qin, Liu, Lin, He, Guo‐Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7753982/
https://www.ncbi.nlm.nih.gov/pubmed/33098376
http://dx.doi.org/10.1111/jcmm.15950