Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

BACKGROUND: Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed model hypothesizes that variation in the levels of protein isoforms generated...

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Detalles Bibliográficos
Autores principales: Assunto, Antonia, Ferrara, Ursula, De Luca, Alessandro, Pivonello, Claudia, Lombardo, Lisa, Piscitelli, Annapina, Tortora, Cristina, Pinna, Valentina, Daniele, Paola, Pivonello, Rosario, Russo, Maria Giovanna, Limongelli, Giuseppe, Colao, Annamaria, Tartaglia, Marco, Strisciuglio, Pietro, Melis, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858644/
https://www.ncbi.nlm.nih.gov/pubmed/31730495
http://dx.doi.org/10.1186/s13023-019-1223-1

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