A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing

Ann Lab Med. 2021 Jan;41(1):123-125. doi: 10.3343/alm.2021.41.1.123. Epub 2020 Aug 25.

Authors

Heerah Lee¹, Hyun-Ki Kim¹, Dong-Hoon Yang², Yong Sang Hong³, Woochang Lee¹, Seok-Byung Lim⁴, Jeong-Sik Byeon², Sail Chun¹, Won-Ki Min¹

Affiliations

¹ Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
² Department of Gastroenterology, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
³ Department of Oncology, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
⁴ Department of Surgery, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adenomatous Polyposis Coli Protein* / genetics
Base Sequence
Humans
Mutation
Pedigree
RNA Splice Sites*
Sequence Analysis, RNA

Substances

APC protein, human
Adenomatous Polyposis Coli Protein
RNA Splice Sites