A novel APOA1 frameshift mutation Glu120Glyfs*60 with upper gastrointestinal involvement and an indolent course

Amyloid. 2023 Sep;30(3):353-355. doi: 10.1080/13506129.2023.2187679. Epub 2023 Mar 15.

Authors

Eli Muchtar¹, Surendra Dasari^{2

3}, Jason D Theis³, Laura Ongie⁴, Huong T Cabral⁴, Ellen D McPhail³, Angela Dispenzieri¹, Morie A Gertz¹, Karen L Rech³

Affiliations

¹ Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
² Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
³ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
⁴ Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

PMID: 36919584
DOI: 10.1080/13506129.2023.2187679

No abstract available

Publication types

Case Reports

MeSH terms

Apolipoprotein A-I* / genetics
Frameshift Mutation* / genetics
Humans
Male

Substances

APOA1 protein, human
Apolipoprotein A-I