SURF1 missense mutations promote a mild Leigh phenotype.
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Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor familyA guide to diagnosis and treatment of Leigh syndrome.High molecular weight forms of mammalian respiratory chain complex IISURF1 deficiency: a multi-centre natural history study.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeHuman diseases associated with defects in assembly of OXPHOS complexes
P2860
Q27931313-FF0F78BE-E32C-4D24-B774-E253D9989050Q27933372-4667D45C-0374-49F6-AAB1-DCBB57E7DD77Q30649372-7E3E619F-4BCA-454E-A16B-DBCE864E1762Q34964619-6630C76D-951C-46FC-9AC3-9762F403E522Q36996508-26E80F74-1041-4DEC-988B-6F5E4475E21EQ37890682-4824C4BD-1EBC-41EA-85CD-3BE8414561EBQ39024278-9685317C-8657-4255-8AC7-A4DD4013B6CDQ42149276-6B9DDA08-C80A-40EB-9B6C-066B771BBF52Q57175222-D7D8091B-8FF6-4A9F-905F-F978A414248E
P2860
SURF1 missense mutations promote a mild Leigh phenotype.
description
2009 nî lūn-bûn
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2009年の論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年论文
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2009年论文
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2009年论文
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name
SURF1 missense mutations promote a mild Leigh phenotype.
@en
SURF1 missense mutations promote a mild Leigh phenotype.
@nl
type
label
SURF1 missense mutations promote a mild Leigh phenotype.
@en
SURF1 missense mutations promote a mild Leigh phenotype.
@nl
prefLabel
SURF1 missense mutations promote a mild Leigh phenotype.
@en
SURF1 missense mutations promote a mild Leigh phenotype.
@nl
P2093
P2860
P50
P1433
P1476
SURF1 missense mutations promote a mild Leigh phenotype
@en
P2093
E Karczmarewicz
E Popowska
L Bielecka
T Szymanska-Debinska
P2860
P304
P356
10.1111/J.1399-0004.2009.01195.X
P50
P577
2009-08-01T00:00:00Z