Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
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Interstitial Lung Disease in Childhood: Clinical and Genetic AspectsHACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.Children's Interstitial and Diffuse Lung Disease. Progress and Future Horizons.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Pulmonary Alveolar Proteinosis Syndrome.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.11th IUBMB Focused Meeting on the Aminoacyl-tRNA Synthetases: Sailing a New Sea of Complex Functions in Human Biology and Disease.Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literatureBi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
P2860
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P2860
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Biallelic Mutations of Methion ...... s Prevalent on Réunion Island.
@ast
Biallelic Mutations of Methion ...... s Prevalent on Réunion Island.
@en
type
label
Biallelic Mutations of Methion ...... s Prevalent on Réunion Island.
@ast
Biallelic Mutations of Methion ...... s Prevalent on Réunion Island.
@en
prefLabel
Biallelic Mutations of Methion ...... s Prevalent on Réunion Island.
@ast
Biallelic Mutations of Methion ...... s Prevalent on Réunion Island.
@en
P2093
P2860
P50
P1476
Biallelic Mutations of Methion ...... s Prevalent on Réunion Island.
@en
P2093
Alice Hadchouel
Aurore Coulomb
Bettina Lorenz-Depiereux
Christophe Delacourt
Elisabeth Graf
François Cartault
Gertrud Eckstein
Jacques de Blic
Jean Christophe Dubus
Laurent Enaud
P2860
P304
P356
10.1016/J.AJHG.2015.03.010
P407
P577
2015-04-23T00:00:00Z