A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure

• Main Authors: Chunli Wang (Author), Yang Wang (Author), Feng Zhu (Author), Jing Xiong (Author)
• Formato: Livro
• Publicado em: Karger Publishers, 2013-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Background: Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited. Methods: In this...