Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
about
Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.Human diseases associated with defects in assembly of OXPHOS complexesNMR as a Tool to Investigate the Processes of Mitochondrial and Cytosolic Iron-Sulfur Cluster Biosynthesis
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P2860
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年學術文章
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name
Novel mutations in IBA57 are a ...... variable clinical phenotypes.
@en
Novel mutations in IBA57 are a ...... variable clinical phenotypes.
@nl
type
label
Novel mutations in IBA57 are a ...... variable clinical phenotypes.
@en
Novel mutations in IBA57 are a ...... variable clinical phenotypes.
@nl
prefLabel
Novel mutations in IBA57 are a ...... variable clinical phenotypes.
@en
Novel mutations in IBA57 are a ...... variable clinical phenotypes.
@nl
P2093
P2860
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Novel mutations in IBA57 are a ...... variable clinical phenotypes.
@en
P2093
Alessandra Torraco
Anna Ardissone
Daniela Verrigni
Diego Martinelli
Isabella Moroni
Laura Farina
Nadia Zanetti
Rosalba Carrozzo
Teresa Rizza
P2860
P2888
P304
P356
10.1007/S00415-016-8312-Z
P50
P577
2016-10-26T00:00:00Z