Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)-MedSci.cn

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Topf, A; Pyle, A; Griffin, H; Matalonga, L; Schon, K; Cohen, E; Sickmann, A; Schara-Schmidt, U; Hentschel, A; Chinnery, PF; Kolbel, H; Roos, A; Horvath, R

Horvath, R (corresponding author), Univ Cambridge, Dept Clin Neurosci, Cambridge, England.; Roos, A (corresponding author), Childrens Hosp Univ Essen, Dept Pediat Neurol Dev Neurol & Social Pediat, Essen, Germany.

Abstract

TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation a......

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

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