Article
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Human mutation - 1 Nov 2013
Sabbagh Audrey, Pasmant Eric, Imbard Apolline, Luscan Armelle, Soares Magali, Blanché Hélène, Laurendeau Ingrid, Ferkal Salah, Vidaud Michel, Pinson Stéphane, Bellanné-Chantelot Christine, Vidaud Dominique, Parfait Béatrice, Wolkenstein Pierre
Abstract excerpt
Neurofibromatosis type 1 (NF1) affects about one in 3,500 people in all ethnic groups. Most NF1 patients have private loss-of-function mutations scattered along the NF1 gene. Here, we present an original NF1 investigation strategy and report a comprehensive mutation analysis of 565 unrelated patients from the NF-France Network. A NF1 mutation was identified in 546 of the 565 patients, giving a mutation detection...
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