The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by inactivating mutations of the NF1 gene. The wide allelic heterogeneity of this condition, with more than 3,000 pathogenic variants reported so far, is paralleled by its high clinical variability, which is observe...

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Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Trevisson, Eva, Morbidoni, Valeria, Forzan, Monica, Daolio, Cecilia, Fumini, Valentina, Parrozzani, Raffaele, Cassina, Matteo, Midena, Edoardo, Salviati, Leonardo, Clementi, Maurizio
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503065/
https://ncbi.nlm.nih.gov/pubmed/30843352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.616
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