Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
about
Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseAnalysis 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 familyCytochrome c oxidase deficiencyMutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiencySURF1 deficiency: a multi-centre natural history study.Myopathology of Adult and Paediatric Mitochondrial Diseases.A SURF1 gene mutation presenting as isolated leukodystrophy.
P2860
Q24648969-B595F2CA-B65B-499F-8942-5795EE504D1EQ27931313-1BDB35FC-2DE5-45FB-BA6D-19A0945A10D9Q27933372-FFB63C8A-006B-4F26-9A3E-2BEDFC02888CQ28189586-376D485B-47CF-4B98-8253-065C45BCC9F8Q28214123-A843B988-DCCD-447A-8421-11BC2FF3EA23Q36996508-4C6CF48C-D38A-40B6-98BE-2CDC07A4523CQ39414816-BD2BB21B-DEFA-4E2C-AD1A-1962B5FA1E66Q48839472-36436162-6A1E-4767-9902-B1A8ADA08706
P2860
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@ast
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@en
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@nl
type
label
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@ast
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@en
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@nl
prefLabel
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@ast
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@en
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@nl
P2093
P356
P1433
P1476
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
@en
P2093
P2888
P356
10.1007/S004399900191
P407
P577
1999-12-01T00:00:00Z
P6179
1036639034