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

• Main Authors: Chi Zhou (Author), Jin Huang (Author), Guanglin Cui (Author), Hesong Zeng (Author), Dao Wen Wang (Author), Qiang Zhou (Author)
• Format: Book
• Published: BMC, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: 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...