Fabry disease: Detection of Alu-mediated exon duplication by NGS

• Tipo: Artigo em Revista Científica Internacional
• Data: 2019

Autores

Farr, M (Autor) Outra; Ferreira, S (Autor) Outra; Al Dilaimi, A (Autor) Outra; Boegeholz, S (Autor) Outra; Goesmann, A (Autor) Outra; Kalinowski, J (Autor) Outra; Knabbe, C (Autor) Outra; Faber, L (Autor) Outra; João Paulo Oliveira (Autor) FMUP; Rudolph, V (Autor) Outra

Revista

Título: Molecular and Cellular Probes

Vol. 45

Páginas: 79-83

ISSN: 0890-8508

Editora: Elsevier

Indexação

ISI Web of Knowledge - 2 Citações

Scopus - 3 Citações

Outras Informações

ID Authenticus: P-00Q-E2Y

DOI: 10.1016/j.mcp.2019.03.008

Abstract (EN): Monogenetic diseases can be analyzed routinely by targeted DNA sequencing. If causative variants are not found, complementary methods like RNA sequencing or analysis of copy number variations by multiplex ligation-dependent probe amplification have to be considered. In the latter, especially exonic duplications or deletions can be detected, but the precise sites of mutations remain unclear. As we demonstrate in this casuistic report of Fabry disease, next-generation sequencing (NGS) of a long-range PCR product can identify the recombination site directly and illuminate the underlying molecular mechanism.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5