Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

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Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

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http://www.wikidata.org/entity/Q57067852

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article

@en

im September 2018 veröffentlichter wissenschaftlicher Artikel

@de

wetenschappelijk artikel

@nl

наукова стаття, опублікована у вересні 2018

@uk

name

Novel methionyl-tRNA synthetas ...... eport and review of literature

@en

Novel methionyl-tRNA synthetas ...... eport and review of literature

@nl

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Novel methionyl-tRNA synthetas ...... eport and review of literature

@en

Novel methionyl-tRNA synthetas ...... eport and review of literature

@nl

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Novel methionyl-tRNA synthetas ...... eport and review of literature

@en

Novel methionyl-tRNA synthetas ...... eport and review of literature

@nl

P1476

Novel methionyl-tRNA synthetas ...... eport and review of literature

@en

P2093

Jia-Yan Feng

http://www.w3.org/2001/XMLSchema#string

Lian Chen

http://www.w3.org/2001/XMLSchema#string

Xin-Bao Xie

http://www.w3.org/2001/XMLSchema#string

Yi Lu

http://www.w3.org/2001/XMLSchema#string

P275

Creative Commons Attribution-NonCommercial 4.0 License

P2860

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Aminoacyl-tRNA synthesis

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

Methionyl-tRNA synthetase.

Evaluation and Referral for Developmental Dysplasia of the Hip in Infants.

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

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

Aminoacyl-tRNA synthetases in medicine and disease

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

P304

4208-4216

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P31

scholarly article

case report

P356

10.3748/WJG.V24.I36.4208

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P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Jian-She Wang

Kuerbanjiang Abuduxikuer

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ScienceSource

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2018-09-01T00:00:00Z

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P698

30271085

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P921

gastroenterology

pulmonary alveolar proteinosis

Anzim

liver disease

P932

6158480

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