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Identification of Novel CELSR1 Mutations in Spina Bifida

Spina bifida is one of the most common neural tube defects (NTDs) with a complex etiology. Variants in planar cell polarity (PCP) genes have been associated with NTDs including spina bifida in both animal models and human cohorts. In this study, we sequenced all exons of CELSR1 in 192 spina bifida p...

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Detalles Bibliográficos
Autores principales: Lei, Yunping, Zhu, Huiping, Yang, Wei, Ross, M. Elizabeth, Shaw, Gary M., Finnell, Richard H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3954890/
https://www.ncbi.nlm.nih.gov/pubmed/24632739
http://dx.doi.org/10.1371/journal.pone.0092207

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