One NF1 Mutation may Conceal Another

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, w...

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Publicat a:Genes (Basel)
Autors principals: Pacot, Laurence, Burin des Roziers, Cyril, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Mayard, Théodora, Tlemsani, Camille, Faivre, Laurence, Thomas, Quentin, Rodriguez, Diana, Blesson, Sophie, Dollfus, Hélène, Muller, Yvon-Gauthier, Parfait, Béatrice, Vidaud, Michel, Gilbert-Dussardier, Brigitte, Yardin, Catherine, Dauriat, Benjamin, Derancourt, Christian, Vidaud, Dominique, Pasmant, Eric
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6769760/
https://ncbi.nlm.nih.gov/pubmed/31443423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10090633
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