Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report

• Autores principales: Hong Sang Choi (Autor), Oh Il Kwon (Autor), Sung Sun Kim (Autor), Jae Yeong Cho (Autor), Eun Hui Bae (Autor), Seong Kwon Ma (Autor), Soo Wan Kim (Autor), Chang Seong Kim (Autor)
• Formato: Libro
• Publicado: BMC, 2024-10-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Fabry disease is an X-linked lysosomal storage disease caused by the impairment of α-galactosidase A. The complex intronic haplotype (CIH) variants, located in promoter and intronic regulatory lesions, has been found in patients with classical forms of Fabry disease. We present a...