Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
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SQSTM1 Mutations and Glaucoma.Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.TRNT1 deficiency: clinical, biochemical and molecular genetic featuresMutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Automated, high-throughput, in vivo analysis of visual function using the zebrafish.Zebrafish: A Functional Refuge at the End of an Odyssey.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.ASSESSMENT OF AAV SEROTYPE TROPISM IN HUMAN RETINAL EXPLANTS.Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.RNA Biology in Retinal Development and Disease.Translational attenuation and retinal degeneration in mice with an active integrated stress response.
P2860
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P2860
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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name
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
@ast
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
@en
type
label
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
@ast
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
@en
prefLabel
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
@ast
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
@en
P2093
P2860
P50
P356
P1476
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis
@en
P2093
Adam P DeLuca
C Anthony Scott
Jenna Barnes
Jill S Wiley
Luke A Wiley
Matthew C Weed
Michael J Schnieders
Rebecca M Johnston
Trudi A Westfall
P2860
P356
10.1093/HMG/DDV446
P50
P577
2015-10-22T00:00:00Z