Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy‐Like Phenotype. Issue 4 (19th March 2015)

• Record Type: Journal Article
• Authors: Puppo, Francesca; Dionnet, Eugenie; Gaillard, Marie‐Cécile; Gaildrat, Pascaline; Castro, Christel; Vovan, Catherine; Bertaux, Karine; Bernard, Rafaelle; Attarian, Shahram; Goto, Kanako; Nishino, Ichizo; Hayashi, Yukiko; Magdinier, Frédérique; Krahn, Martin; Helmbacher, Françoise; Bartoli, Marc; Lévy, Nicolas
• Is Part Of: Human mutation. Volume 36:Issue 4(2015:Apr.)
• Page Start: 443
• Page End: 453
• Publication Date: 2015-03-19
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22760
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22760-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>This work identifies mutations in FAT1 gene, coding for a transmembrane protein expressed on transverse T tubules of muscle fibers. These mutations, that provoke splicing defects of FAT1 transcript, are carried in FSHD‐like patients. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjdndb1ck" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>