Author:
Filosto Massimiliano,Aureli Massimo,Castellotti Barbara,Rinaldi Fabrizio,Schiumarini Domitilla,Valsecchi Manuela,Lualdi Susanna,Mazzotti Raffaella,Pensato Viviana,Rota Silvia,Gellera Cinzia,Filocamo Mirella,Padovani Alessandro
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. Bernardo K, Hurwitz R, Zenk T et al: Purification, characterization, and biosynthesis of human acid ceramidase. J Biol Chem 1995; 270: 11098–11102.
2. Li CM, Park JH, He X et al: The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. Genomics 2000; 62: 223–231.
3. Moser HW, Moser AB, Chen WW, Schram AW . Ceramidase deficiency: Farber lipogranulomatosis In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease Vol. II 6th ed. McGraw-Hill: New York, USA, 1989, pp 1645–1654.
4. Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN : The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014; 133: 1–9.
5. Zhou J, Tawk M, Tiziano FD et al: Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet 2012; 91: 5–14.
Cited by
17 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献