A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

Item
http://www.wikidata.org/entity/Q34986889
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.Renal manifestations of primary mitochondrial disorders.Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case reportRenal manifestations of genetic mitochondrial disease.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Metabolism and homeostasis in the kidney: metabolic regulation through insulin signaling in the kidney.Cardiac manifestations of mitochondrial disordersMitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature
P2860

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

Item
http://www.wikidata.org/entity/Q34986889
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2013 nî lūn-bûn
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2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@ast
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@en
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@nl
type
label
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@ast
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@en
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@nl
prefLabel
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@ast
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@en
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
A new mutation in the gene enc ...... e as a cause of HUPRA syndrome
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932