Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease

• 主要な著者: Chi Zhou (著者), Jin Huang (著者), Guanglin Cui (著者), Hesong Zeng (著者), Dao Wen Wang (著者), Qiang Zhou (著者)
• フォーマット: 図書
• 出版事項: BMC, 2018-12-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A). The insufficient enzymatic activity leads to excessive accumulation of glycosphingolipids, the substrates of the enzyme, in lysosomes in organs and tis...