Dan Wang Shengyun Liang Xipeng Zhang Subrata Kumar Dey Yuwei Li Chen Xu Yongjun Yu Mingsen Li Guoru Zhao Zhao Zhang
10.1002/mgg3.505
Mol Genet Genomic Med
2019 Jan;7(1):e00505.
apc gene chinese population colorectal cancer familial adenomatous polyposis single nucleotide deletion targeted next-generation sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/30523670/
Adenomatous Polyposis Coli / genetics Adenomatous Polyposis Coli Protein / genetics Germ-Line Mutation Polymorphism, Single Nucleotide
Adenomatous Polyposis Coli / genetics Adenomatous Polyposis Coli Protein / genetics Germ-Line Mutation Polymorphism, Single Nucleotide Case Reports Research Support, Non-U.S. Gov't Adenomatous Polyposis Coli / pathology Adult Female Genetic Testing / methods Humans Loss of Function Mutation Male Middle Aged Pedigree Sequence Analysis, DNA / methods APC protein, human Adenomatous Polyposis Coli Protein
PMC6382451
30523670
Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis
2019