The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis - Yagi, Shusuke; Miyamoto, Ryosuke; Tasaki, Masayoshi; Morino, Hiroyuki; Otani, Ryuji; Kadota, Muneyuki; Ise, Takayuki; Yamazaki, Hiroki; Kusunose, Kenya; Yamaguchi, Koji; Yamada, Hirotsugu; Soeki, Takeshi; et al. (Human genome variation, 2024)
Keywords: 631/208; 631/208/2489/144; Age; Amino acids; Amyloidogenesis; Amyloidosis; Biomedical and Life Sciences; Biomedicine; Biopsy; Blood tests; Data Report; Diuretics; Ejection fraction; Electrocardiography; Families & family life; Gene Expression; Gene Function; Gene Therapy; Genomes; Genotype & phenotype; Heart; Hospitals; Human Genetics; Immunohistochemistry; Kidneys; Mass spectrometry; Medicine; Molecular Medicine; Peptides; Proteins; Scientific imaging; Scintigraphy; University graduates