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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 123 - 125 (3page)
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Dear Editor, Constitutional variants of the tumor suppressor gene adenomatous polyposis coli (APC) cause familial adenomatous polyposis (FAP), an autosomal dominant disorder characterized by numerous adenomatous colorectal polyps [1]. We detected a novel synonymous splice variant of APC in a family with FAP by next generation sequencing (NGS) and confirmed its impact on splicing by RNA sequencing.
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참고문헌 (7)
참고문헌 신청
Powell SM / 1993 / Molecular diagnosis of familial adenomatous polyposis / N Engl J Med 329:1982~1987
Yurgelun MB / 2015 / Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome / Gastroenterology 149:604~613.e20
Richards S / 2015 / 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 17:405~424
Nielsen M / 2007 / Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis / Clin Genet 71:427~433
Aretz S / 2004 / Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene / Hum Mutat 24:370~380
Yurgelun MB / 2015 / Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome / Gastroenterology 149:604~613.e20
Richards S / 2015 / 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 17:405~424
Nielsen M / 2007 / Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis / Clin Genet 71:427~433
Aretz S / 2004 / Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene / Hum Mutat 24:370~380
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