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

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

Abstract 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 g...

Full description

Bibliographic Details
Main Authors: Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio, Daniela Melis
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
NF1
Neurofibromatosis type 1
Alternative splicing
Gene expression
mRNA isoforms
Phenotypic expressivity
Online Access:http://link.springer.com/article/10.1186/s13023-019-1223-1

Internet

http://link.springer.com/article/10.1186/s13023-019-1223-1

Similar Items