TY  - GEN
AU  - Meunier,Isabelle
AU  - Lenaers,Guy
AU  - Bocquet,Béatrice
AU  - Baudoin,Corinne
AU  - Piro-Megy,Camille
AU  - Cubizolle,Aurélie
AU  - Quilès,Mélanie
AU  - Jean-Charles,Albert
AU  - Cohen,Salomon Yves
AU  - Merle,Harold
AU  - Gaudric,Alain
AU  - Labesse,Gilles
AU  - Manes,Gaël
AU  - Péquignot,Marie
AU  - Cazevieille,Chantal
AU  - Dhaenens,Claire-Marie
AU  - Fichard,Agnès
AU  - Ronkina,Natalia
AU  - Arthur,Simon J
AU  - Gaestel,Matthias
AU  - Hamel,Christian P
TI  - A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium
SN  - 1460-2083
PY  - 2016///1213
KW  - Adult
KW  - Age of Onset
KW  - Aged, 80 and over
KW  - Amino Acid Sequence
KW  - Animals
KW  - Bruch Membrane
KW  - metabolism
KW  - Exome
KW  - Female
KW  - Gene Expression Regulation
KW  - HEK293 Cells
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - genetics
KW  - Male
KW  - Mice
KW  - Mice, Knockout
KW  - Middle Aged
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Protein Serine-Threonine Kinases
KW  - Protein Structure, Secondary
KW  - Retinal Dystrophies
KW  - Retinal Pigment Epithelium
KW  - Sequence Alignment
KW  - Siblings
KW  - Signal Transduction
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddv624
ER  -