Author:
Granata Barbara Xoana,Baralle Marco,De Conti Laura,Parera Victoria,Rossetti Maria Victoria
Publisher
Springer Berlin Heidelberg
Reference29 articles.
1. Anderson KE, Sassa S, Bishop DF, Desnick RJ (2001) Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS et al (eds) The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill, New York, pp 2991–3062
2. Baralle M, Baralle D (2005) Splicing in action: assessing disease causing sequence changes. J Med Genet 10:737–748
3. Baralle D, Lucassen A, Buratti E (2009) Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 10(8):810–816
4. Batlle AMC (1997) Porfirinas y Porfirias. Aspectos clínicos, bioquímicos y biología molecular. Actualizaciones médico-bioquímicas. Buenos Aires. Acta Bioquímica Clínica Latinoamericana
5. Cartegni L, Wang J, Zhu Z et al (2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31(13):3568–3571
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