The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyAdvances in Skeletal Dysplasia GeneticsDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesMagmas functions as a ROS regulator and provides cytoprotection against oxidative stress-mediated damagesYeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.The TIM23 mitochondrial protein import complex: function and dysfunction.Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.Nosology and classification of genetic skeletal disorders: 2015 revision.Mutations in compromise cell survival in OxPhos-dependent metabolic conditions
P2860
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P2860
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
description
2014 nî lūn-bûn
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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2014 թվականի մայիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@ast
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@en
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@en-gb
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@nl
type
label
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@ast
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@en
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@en-gb
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@nl
prefLabel
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@ast
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@en
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@en-gb
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@nl
P2093
P2860
P50
P921
P1433
P1476
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
@en
P2093
Agnès Delahodde
Cybel Mehawej
Eliane Chouery
Zoha Kibar
P2860
P304
P356
10.1371/JOURNAL.PGEN.1004311
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P50
P577
2014-05-01T00:00:00Z