논문KCI 등재
Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA Sequencing
1
조회
0
다운로드
0
인용
0
참고문헌
주제분류병리학
참고문헌 (8)
- Zhang Y, "A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing", Biochem Biophys Res Commun, 447, pp.503~507 (2014)
- Stenson PD, "Human Gene Mutation Database (HGMD): 2003 update", Hum Mutat, 21, pp.577~581 (2003)
- Jian X, "In silico prediction of splice-altering single nucleotide variants in the human genome", Nucleic Acids Res, 42, pp.13534~13544 (2014)
- Desmet FO, "Human Splicing Finder : an online bioinformatics tool to predict splicing signals", Nucleic Acids Res, 37, pp.e67~ (2009)
- Yeo G, "Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals", J Comput Biol, 11, pp.377~394 (2004)
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Tsukanov AS, "Mutations in the APC gene in Russian patients with classic form of familial adenomatous polyposis", Russ J Genet, 53, pp.369~375 (2017)
- Jarry J, "A survey of APC mutations in Quebec", Fam Cancer, 10, pp.659~665 (2011)
관련 논문AI추천
A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA SequencingByeon Jeong-Sik, Chun Sail, Hong Yong Sang, Kim Hyun-Ki, Lee Heerah, Lee Woochang, Lim Seok-Byung, Min Won-Ki, Yang Dong-Hoon대한진단검사의학회 · Annals of Laboratory Medicine2021 · 제41권 제1호RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G)이재련, 전사일, Gu Hyunjung, Hong Jinyoung, Lee Woochang, Min Won-Ki, Na Rae대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제3호RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance ( SDHD c.314+3A>T) in Splicing Site Consensus SequencesChun Sail, Gu Hyunjung, Hong Jinyoung, Kim Sung-Bae, Lee Woochang, Min Won-Ki대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제3호A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting김종원, Kim Na-Kyoung대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제2호Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)김솔잎, 이인섭, 전사일, Kim Jiyeon, Lee Seunghoo, Lee Woochang, Yu Joonsang대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제2호A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases박효진, 윤상진, 장재훈거트앤리버 소화기연관학회협의회 · Gut and Liver2013 · 제7권 제1호
이 간행물의 다른 논문 (11건)
Cortisol Measurements in Cushing's Syndrome: Immunoassay or Mass Spectrometry?Gregori Casals, Felicia Alexandra Hanzupp. 285-296HDL Subclass Analysis in Predicting Metabolic Syndrome in Koreans With High HDL Cholesterol LevelsHanah Kim, Salvatore Di Somma, Hyun Suk Yang, Sun Jong Kim, Sojung Shin, Mina Hurpp. 297-305Determination of Colistin Resistance by Simple Disk Diffusion Test Using Modified Mueller-Hinton AgarDaewon Kim, Jean Damascene Uwizeyimana, Hyunsook Lee, Jung-Hyun Byun, 용동은pp. 306-311Development of an Automated Image Analyzer for Microvessel Density Measurement in Bone Marrow BiopsiesKwang Gi Kim, 공선영, 심효은, Yousun Chung, Seungwon Shin, Ji Yeon Sohn, Dong-eun Lee, Lee Hyewon, Hyeon Seok Eompp. 312-316Comparison Between the SFTS-QS Kit and the PowerChek SFTSV Real-time PCR Kit for the Detection of Severe Fever With Thrombocytopenia Syndrome VirusYoung Kyung Yoon, Nam Yong Lee, 유인영, Hee Jae Huh, Ji-Youn Kimpp. 317-320
