Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations

Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an important role in NAD metabolism and organ embryogenesis....

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Detalles Bibliográficos
Autores principales: Lin, Jiachen, Zhao, Lina, Zhao, Sen, Li, Shengjie, Zhao, Zhengye, Chen, Zefu, Zheng, Zhifa, Shao, Jiashen, Niu, Yuchen, Li, Xiaoxin, Zhang, Jianguo Terry, Wu, Zhihong, Wu, Nan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535205/
https://www.ncbi.nlm.nih.gov/pubmed/34681008
http://dx.doi.org/10.3390/genes12101615

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535205/
https://www.ncbi.nlm.nih.gov/pubmed/34681008
http://dx.doi.org/10.3390/genes12101615

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