NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience. Issue 11 (26th August 2013)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Human mutation. Volume 34:Issue 11(2013:Nov.)
• Page Start: 1510
• Page End: 1518
• Publication Date: 2013-08-26
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22392
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22392-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Most neurofibromatosis type 1 patients have private loss‐of‐function mutations scattered along the <italic>NF1</italic> gene. Here, we present an original combined cDNA/DNA <italic>NF1</italic> investigation strategy and report a comprehensive mutation analysis of 565 unrelated patients from the NF‐France Network. A <italic>NF1</italic> mutation was identified in 546 of the 565 patients, giving a mutation detection rate of 97%. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3j6prn69" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>