A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
about
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyCytochrome c oxidase deficiencyMutation screening in patients with isolated cytochrome c oxidase deficiencyMitochondrial disorders. A diagnostic challenge in clinical chemistry.Maternally inherited hearing impairment.Human cytochrome oxidase deficiency.The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyFrequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.MITOP, the mitochondrial proteome database: 2000 update.A SURF1 gene mutation presenting as isolated leukodystrophy.The MT-CO1 V83I Polymorphism is a Risk Factor for Primary Open-Angle Glaucoma in African American Men.
P2860
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P2860
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
A systematic mutation screen o ...... with syndromal encephalopathy.
@ast
A systematic mutation screen o ...... with syndromal encephalopathy.
@en
type
label
A systematic mutation screen o ...... with syndromal encephalopathy.
@ast
A systematic mutation screen o ...... with syndromal encephalopathy.
@en
prefLabel
A systematic mutation screen o ...... with syndromal encephalopathy.
@ast
A systematic mutation screen o ...... with syndromal encephalopathy.
@en
P2093
P2860
P356
P1476
A systematic mutation screen o ...... with syndromal encephalopathy.
@en
P2093
Gerbitz KD
Liechti-Gallati S
Müller-Höcker J
Pongratz DE
P2860
P304
P356
10.1136/JMG.35.11.895
P407
P577
1998-11-01T00:00:00Z