Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
International Journal Of Molecular Sciences
Bonatti, Francesco F; Adorni, Alessia A; Matichecchia, Annalisa A; Mozzoni, Paola P; Uliana, Vera V; Pisani, Francesco F; Garavelli, Livia L; Graziano, Claudio C; Gnoli, Maria M; Carli, Diana D; Bigoni, Stefania S; Boschi, Elena E; Martorana, Davide D; Percesepe, Antonio A
Publication Date: 2017-09-29
Variant appearance in text: NF1: 3632T>G; Leu1211Arg
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
The Journal Of Biological Chemistry
Hirata, Yasuko Y; Brems, Hilde H; Suzuki, Mayu M; Kanamori, Mitsuhiro M; Okada, Masahiro M; Morita, Rimpei R; Llano-Rivas, Isabel I; Ose, Toyoyuki T; Messiaen, Ludwine L; Legius, Eric E; Yoshimura, Akihiko A