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, Wakatsuki, Tetsuzo, Fukuda, Daiju, Ueda, Mitsuharu, Sata, Masataka

説明

ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.

収録刊行物

Human Genome Variation

Human Genome Variation 11 30-, 2024-08-16

Springer Nature

詳細情報詳細情報について

CRID: 1050864324980555392

ISSN: 2054345X

Web Site: http://repo.lib.tokushima-u.ac.jp/119580

本文言語コード: en

資料種別: journal article

データソース種別

IRDB

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

説明

収録刊行物

詳細情報詳細情報について

書き出し

問題の指摘

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

説明

収録刊行物

詳細情報 詳細情報について

書き出し

問題の指摘

詳細情報詳細情報について