A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
about
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseZellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.Complex III staining in blue native polyacrylamide gels.
P2860
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A new family with the mitochon ...... esenting with hydrops fetalis.
@ast
A new family with the mitochon ...... esenting with hydrops fetalis.
@en
type
label
A new family with the mitochon ...... esenting with hydrops fetalis.
@ast
A new family with the mitochon ...... esenting with hydrops fetalis.
@en
prefLabel
A new family with the mitochon ...... esenting with hydrops fetalis.
@ast
A new family with the mitochon ...... esenting with hydrops fetalis.
@en
P2093
P50
P1476
A new family with the mitochon ...... resenting with hydrops fetalis
@en
P2093
Ann Meulemans
Anne Debeer
Jaak Jaeken
Linda De Meirleir
Rudy Van Coster
Sara Seneca
P356
10.1016/J.EJPN.2006.10.004
P577
2006-12-11T00:00:00Z