Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements

Neurofibromatosis type 1 is an autosomal-dominant condition caused by NF1 gene inactivation. Clinical diagnosis is corroborated by genetic tests on gDNA and cDNA, which are inconclusive in approximately 3–5% of cases. Genomic DNA approaches may overlook splicing-affecting intronic variants and struc...

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Detalles Bibliográficos
Autores principales: Alesi, Viola, Genovese, Silvia, Lepri, Francesca Romana, Catino, Giorgia, Loddo, Sara, Orlando, Valeria, Di Tommaso, Silvia, Morgia, Alessandra, Martucci, Licia, Di Donato, Maddalena, Digilio, Maria Cristina, Dallapiccola, Bruno, Novelli, Antonio, Capolino, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10216257/
https://www.ncbi.nlm.nih.gov/pubmed/37238595
http://dx.doi.org/10.3390/biom13050725

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