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Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome

The genome‐wide sequencing information of PJS is still lacking. Our result demonstrates that c.862+2T>C variant on STK11 as an important foundation of molecular mechanism in this familial PJS. Variants in KDR and MLL3 may play important roles in the initiation and development of this familial PJS...

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Detalles Bibliográficos
Autores principales:	Qiu, Yudian, Xuan, Tao, Yin, Mujun, Gao, Zhidong, Guo, Peng, Chen, Xi, Ye, Yingjiang, Shen, Zhanlong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452494/ https://www.ncbi.nlm.nih.gov/pubmed/30997075 http://dx.doi.org/10.1002/ccr3.2073

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