Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

Authors :: Nikopoulos, Konstantinos
Gilissen, Christian
Hoischen, Alexander
van Nouhuys, C. Erik
Boonstra, F. Nienke
Blokland, Ellen A.W.
Arts, Peer
Wieskamp, Nienke
Strom, Tim M.
Ayuso, Carmen
Tilanus, Mauk A.D.
Bouwhuis, Sanne
Mukhopadhyay, Arijit
Scheffer, Hans
Hoefsloot, Lies H.
Veltman, Joris A.
Cremers, Frans P.M.
Collin, Rob W.J.
Source :: American Journal of Human Genetics. Feb 12, 2010, Vol. 86 Issue 2, p240, 8 p.
Publication Year :: 2010
Abstract: A study applies next-generation sequencing of a 40 Mb linkage interval in affected persons to identify the gene which causes autosomal-dominant familial exudative vitreoretinopathy (FEVR). Results reveal that mutations in the TSPAN12 are associated with FEVR incidence.

Subjects :: Nucleotide sequence -- Research
Linkage (Genetics) -- Research
Gene mutations -- Research
Biological sciences

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