Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity (vol 252, pg 1789, 2014)
Por:
Zenteno, JC, Crespi, J, Buentello-Volante, B, Buil, JA, Bassaganyas, F, Vela-Segarra, JI, Diaz-Cascajosa, J, Marieges, MT
Publicada:
1 ago 2015
Resumen:
Filiaciones:
Zenteno, JC:
Natl Autonomous Univ Mexico UNAM, Dept Genet, Mexico City 06800, DF, Mexico
Natl Autonomous Univ Mexico UNAM, Inst Ophthalmol Conde Valenciana, Res Unit, Mexico City 06800, DF, Mexico
Natl Autonomous Univ Mexico UNAM, Fac Med, Dept Biochem, Mexico City 06800, DF, Mexico
Crespi, J:
Autonomous Univ Barcelona, Dept Ophthalmol, Hosp St Pau & Santa Creu, Barcelona, Spain
Buentello-Volante, B:
Natl Autonomous Univ Mexico UNAM, Dept Genet, Mexico City 06800, DF, Mexico
Natl Autonomous Univ Mexico UNAM, Inst Ophthalmol Conde Valenciana, Res Unit, Mexico City 06800, DF, Mexico
Natl Autonomous Univ Mexico UNAM, Fac Med, Dept Biochem, Mexico City 06800, DF, Mexico
Buil, JA:
Autonomous Univ Barcelona, Dept Ophthalmol, Hosp St Pau & Santa Creu, Barcelona, Spain
Bassaganyas, F:
Autonomous Univ Barcelona, Dept Ophthalmol, Hosp St Pau & Santa Creu, Barcelona, Spain
Vela-Segarra, JI:
Autonomous Univ Barcelona, Dept Ophthalmol, Hosp St Pau & Santa Creu, Barcelona, Spain
Diaz-Cascajosa, J:
Autonomous Univ Barcelona, Dept Ophthalmol, Hosp St Pau & Santa Creu, Barcelona, Spain
Marieges, MT:
Autonomous Univ Barcelona, Dept Ophthalmol, Hosp St Pau & Santa Creu, Barcelona, Spain
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