Characterization of Variegate Porphyria Mutations Using a Minigene Approach

Author:

Granata Barbara Xoana,Baralle Marco,De Conti Laura,Parera Victoria,Rossetti Maria Victoria

Publisher

Springer Berlin Heidelberg

Reference29 articles.

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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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1. Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria;Molecular Genetics and Metabolism Reports;2019-09

2. Porphyria: Analysis of Register from Brazilian Association of Porphyria (ABRAPO);Hematology & Transfusion International Journal;2016-10-20

3. Variant c.2262A>C inDOCK9Leads to Exon Skipping in Keratoconus Family;Investigative Opthalmology & Visual Science;2015-12-07

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