A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy-Reference-Cited by-同舟云学术

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

Published:2013-04-18 Issue:5 Volume:136 Page:1544-1554
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Jonckheere An I.,Renkema G. Herma,Bras Maaike,van den Heuvel Lambert P.,Hoischen Alexander,Gilissen Christian,Nabuurs Sander B.,Huynen Martijn A.,de Vries Maaike C.,Smeitink Jan A.M.,Rodenburg Richard J.T.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/136/5/1544/13796614/awt086.pdf

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4. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy;Cizkova;Nat Genet,2008

5. The F1F0-ATPase complex from bovine heart mitochondria: the molar ratio of the subunits in the stalk region linking the F1 and F0 domains;Collinson;Biochemistry,1996

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