GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected ind...

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Main Authors: Zanetti, A, Dujardin, G, Fares-Taie, L, Amiel, J, Roger, JE, Audo, I, Robert, MP, David, P, Jung, V, Goudin, N, Guerrera, IC, Moriceau, S, Amana, D, Assia Batzir, N, Bachar-Zipori, A, Basel Salmon, L, Boddaert, N, Briault, S, Bruel, A, Costet-Fighiera, C, Coutinho Santos, L, Gitiaux, C, Kaminska, K, Kuentz, P, Sousa-Luis, R
פורמט: Journal article
שפה:English
יצא לאור: Nature Research 2024

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