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

Nikopoulos, Konstantinos

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. [electronic resource] - American journal of human genetics Feb 2010 - 240-7 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2009.12.016 doi


Amino Acid Sequence
Base Pairing--genetics
Base Sequence
DNA Mutational Analysis
Family
Female
Fundus Oculi
Genetic Linkage
Genome-Wide Association Study
Humans
Male
Membrane Proteins--chemistry
Molecular Sequence Data
Mutation--genetics
Mutation, Missense--genetics
Pedigree
Polymorphism, Single Nucleotide--genetics
Retinal Diseases--genetics
Sequence Analysis, DNA--methods
Tetraspanins