TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F08%3A1098" target="_blank" >RIV/00216208:11110/08:1098 - isvavai.cz</a>

Alternative codes found

RIV/67985823:_____/08:00315194 RIV/00064165:_____/08:1098

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Original language description

TMEM70 is a novel factor of ATP synthase biogenesis and its mutations cause isolated enzyme deficiency and neonatal mitochondrial encephalo-cardiomyopathy

Czech name

Mutace v TMEM70 způsobuje izolovaný deficit ATP syntasy a neonatální mitochondriální encefalo-kardiomyopatii.

Czech description

TMEM70 je nový faktor biogeneze ATP synthasy a jeho mutace způsobuje izolovaný deficit enzymu a neonatální mitochondriální encefalo-kardiomyopatii

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2008

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Nature Genetics

ISSN

1061-4036

e-ISSN

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Volume of the periodical

40

Issue of the periodical within the volume

11

Country of publishing house

US - UNITED STATES

Number of pages

3

Pages from-to

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UT code for WoS article

000260501500019

EID of the result in the Scopus database

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