A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

Christopher B. Jackson, Dagmar Hahn, Barbara Schroter, Uwe Richter, Brendan J. Battersby, Thomas Schmitt-Mechelke, Paula Marttinen, Jean-Marc Nuoffer, Andre Schaller

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

Alkuperäiskielienglanti
LehtiEuropean Journal of Medical Genetics
Vuosikerta60
Numero6
Sivut345-351
Sivumäärä7
ISSN1769-7212
DOI - pysyväislinkit
TilaJulkaistu - kesäkuuta 2017
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

  • 3111 Biolääketieteet
  • 1184 Genetiikka, kehitysbiologia, fysiologia

Lainaa tätä

Jackson, Christopher B. ; Hahn, Dagmar ; Schroter, Barbara ; Richter, Uwe ; Battersby, Brendan J. ; Schmitt-Mechelke, Thomas ; Marttinen, Paula ; Nuoffer, Jean-Marc ; Schaller, Andre. / A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. Julkaisussa: European Journal of Medical Genetics. 2017 ; Vuosikerta 60, Nro 6. Sivut 345-351.
@article{dc4299a8e9af4ca380833ddb96281587,
title = "A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy",
keywords = "MT-ATP6, ATP synthase, Mitochondrial disease, Mitochondrial DNA (mtDNA), Complex V deficiency, BIOCHEMICAL-CHARACTERIZATION, HYPERTROPHIC CARDIOMYOPATHY, POINT MUTATION, LEIGH-SYNDROME, GENE MUTATION, SYNTHASE, DNA, ORGANIZATION, DISORDERS, DISEASES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",
author = "Jackson, {Christopher B.} and Dagmar Hahn and Barbara Schroter and Uwe Richter and Battersby, {Brendan J.} and Thomas Schmitt-Mechelke and Paula Marttinen and Jean-Marc Nuoffer and Andre Schaller",
year = "2017",
month = "6",
doi = "10.1016/j.ejmg.2017.04.006",
language = "English",
volume = "60",
pages = "345--351",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Scientific Publ. Co",
number = "6",

}

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. / Jackson, Christopher B.; Hahn, Dagmar; Schroter, Barbara; Richter, Uwe; Battersby, Brendan J.; Schmitt-Mechelke, Thomas; Marttinen, Paula; Nuoffer, Jean-Marc; Schaller, Andre.

julkaisussa: European Journal of Medical Genetics, Vuosikerta 60, Nro 6, 06.2017, s. 345-351.

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

TY - JOUR

T1 - A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

AU - Jackson, Christopher B.

AU - Hahn, Dagmar

AU - Schroter, Barbara

AU - Richter, Uwe

AU - Battersby, Brendan J.

AU - Schmitt-Mechelke, Thomas

AU - Marttinen, Paula

AU - Nuoffer, Jean-Marc

AU - Schaller, Andre

PY - 2017/6

Y1 - 2017/6

KW - MT-ATP6

KW - ATP synthase

KW - Mitochondrial disease

KW - Mitochondrial DNA (mtDNA)

KW - Complex V deficiency

KW - BIOCHEMICAL-CHARACTERIZATION

KW - HYPERTROPHIC CARDIOMYOPATHY

KW - POINT MUTATION

KW - LEIGH-SYNDROME

KW - GENE MUTATION

KW - SYNTHASE

KW - DNA

KW - ORGANIZATION

KW - DISORDERS

KW - DISEASES

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1016/j.ejmg.2017.04.006

DO - 10.1016/j.ejmg.2017.04.006

M3 - Article

VL - 60

SP - 345

EP - 351

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 6

ER -