One NF1 Mutation may Conceal Another

Autor: Cyril Burin des Roziers, Benjamin Dauriat, Michel Vidaud, Laurence Pacot, Hélène Dollfus, Catherine Yardin, Brigitte Gilbert-Dussardier, Camille Tlemsani, Audrey Coustier, Christian Derancourt, Audrey Briand-Suleau, Yvon-Gauthier Muller, Sophie Blesson, Eric Pasmant, Dominique Vidaud, Ingrid Laurendeau, Diana Rodriguez, Quentin Thomas, Laurence Faivre, Béatrice Parfait, Théodora Mayard

Publikováno v: Genes
Volume 10
Issue 9
Genes, MDPI, 2019, 10 (9), pp.633. ⟨10.3390/genes10090633⟩
Genes, 2019, 10 (9), pp.633. ⟨10.3390/genes10090633⟩
Genes, Vol 10, Iss 9, p 633 (2019)

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 o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::483d9e55fa46b0df3fe43d282e27a653

One NF1 Mutation may Conceal Another.

Autor: 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

Publikováno v: Genes; Sep2019, Vol. 10 Issue 9, p633-633, 1p