논문KCI 등재
Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)
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참고문헌 (10)
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- Lee SH, "Human Holliday junction resolvase GEN1 uses a chromodomain for efficient DNA recognition and cleavage", Elife, 4, pp.e12256~ (2015)
- Li X, "Homologous recombination in DNA repair and DNA damage tolerance", Cell Res, 18, pp.99~113 (2008)
- Turnbull C, "Mutation and association analysis of GEN1 in breast cancer susceptibility", Breast Cancer Res Treat, 124, pp.283~288 (2010)
- Pritchard CC, "Inherited DNA-repair gene mutations in men with metastatic prostate cancer", N Engl J Med, 375, pp.443~453 (2016)
- WHO Classification of Tumours Editorial Board, "WHO Classification of Tumors: Digestive System Tumours" (2019), International Agency for Research on Cancer
- 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)
- Gu H, "RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance (SDHD c.314+3A>T) in Splicing Site Consensus Sequences", Ann Lab Med, 42, pp.376~379 (2022)
관련 논문AI추천
A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting김종원, Kim Na-Kyoung대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제2호RNA 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 제3호Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA SequencingAram Kim, Hyun-Ki Kim, Jeong-Sik Byeon, Sail Chun, Seok-Byung Lim, Sunyoung Ahn, Won-Ki Min, Woochang Lee, Yong Sang Hong대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제4호Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa강경은, 기창석, 김형태, 장자현, 정혜원대한진단검사의학회 · Laboratory Medicine Online2018 · 제8권 제2호Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome권아림, 김명신, 김성준, 김용구, 신석준, 윤혜은, 이승옥, 채효진, 제갈동욱대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호
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