Article
A rapid and sensitive protocol for prenatal molecular diagnosis of X-linked adrenoleukodystrophy.
Clinica chimica acta; international journal of clinical chemistry - 14 Dec 2010
Lan Fenghua, Wang Zhihong, Ke Longfeng, Xie Haihua, Huang Lianghu, Huang Huijuan, Tu Xiangdong, Zheng Dezhu, Zeng Jian, Li Huizhong, Xin Na, Yang Bosheng
Abstract excerpt
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative genetic disease characterized by progressive demylination of the brain, adrenal insufficiency and elevated VLCFA level. ABCD1gene is the disease gene and more than 500 unique mutations in the ABCD1gene have been recorded in the database, approximately 60% of which are noncurrent ones. Although great progress has been made in the treatment of...
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