Article
Human acid ceramidase gene: novel mutations in Farber disease.
Molecular genetics and metabolism - 1 Aug 2000
Zhang Z, Mandal A K, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee A B
Abstract excerpt
Farber disease is an autosomal recessive disorder caused by lysosomal acid ceramidase (AC) deficiency. It commonly manifests during the first few months after birth with a unique triad of painful and progressive deformed joints, subcutaneous nodules, and progressive hoarseness. In order to understand the molecular mechanism(s) of pathogenesis of Farber disease, we isolated and characterized a full-length human AC...
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