A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
about
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
P2860
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
description
2015 nî lūn-bûn
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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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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
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name
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
@ast
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
@en
type
label
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
@ast
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
@en
prefLabel
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
@ast
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
@en
P2093
P2860
P50
P356
P1476
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
@en
P2093
Anna Ardissone
Barbara Garavaglia
Claudia Donnini
Cristina Dallabona
Franco Carrara
Jade Quartararo
P2860
P304
P356
10.1007/8904_2014_397
P577
2015-02-01T00:00:00Z