Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

BACKGROUND: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by the absence of enteric ganglia in the distal part of the gut. RET is the major causative gene and contains > 80% of all known disease-causing mutations. RESULTS: To determine the incidence of RET pathogen...

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Detalles Bibliográficos
Autores principales: Jiang, Qian, Wang, Yang, Li, Qi, Zhang, Zhen, Xiao, Ping, Wang, Hui, Liu, Na, Wu, Jian, Zhang, Feng, Chakravarti, Aravinda, Cai, Wei, Li, Long
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822467/
https://www.ncbi.nlm.nih.gov/pubmed/31666091
http://dx.doi.org/10.1186/s13023-019-1194-2

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