Author:
Caciotti Anna,Bardelli Tiziana,Cunningham John,D'Azzo Alessandra,Zammarchi Enrico,Morrone Amelia
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference34 articles.
1. Bonten EJ, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A (1996) Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev 10:3156–3169
2. Boustany RM, Quian WH, Suzuki K (1993) Mutations in acid ß-galactosidase cause GM1-gangliosidosis in American Patients. Am J Hum Genet 53:881–888
3. Chakraborty S, Rafi MA, Wenger DA (1994) Mutations in the Lysosomal ß-galactosidase gene that cause the adult form of GM1-gangliosidosis. Am J Hum Genet 54:1004–1013
4. den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121–124
5. Galjaard H (1980) Genetic metabolic diseases early diagnosis and prenatal analysis. Elsevier/North Holland Biochemical Press, Amsterdam, pp 825
Cited by
32 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