Wolman Disease in Bulgarian Patients: Selective Genetic Screening in Two Presumable Endemic Regions

• 作 者: Angelina Mandadzhieva Daniela
• 机 构: GeneticMedico-DiagnosticLaboratory“Genica”,DepartmentofGenetics,NationalGeneticLaboratory,Department
• 出 处: 美国分子生物学期刊(英文)
• 发表日期: 2017年4期
• 关键词: Wolman Disease LIPA Gene LYSOSOMAL Acid LIPASE MUTATIONS SELECTIVE Screening Wol

Wolman disease is a rare autosomal recessive disorder caused by mutations in the LIPA gene (10q23.31). The LIPA gene encodes lysosomal acid lipase (LAL), which plays a key role in hydrolysis of the cholesteryl esters and triglycerides. Two unrelated famil