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TMEM70 deficiency: long-term outcome of 48 patients

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TMEM70 deficiency: long-term outcome of 48 patients

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1681260536

TMEM70 deficiency: long-term outcome of 48 patients

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Publication information

Publisher

Dordrecht: Springer Netherlands

Subjects

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Scope and Contents

Contents

Objectives
TMEM70 deficiency is the most common nuclear-encoded defect affecting the ATP synthase. In this multicentre retrospective study we characterise the natural history of the disease, treatment and outcome in 48 patients with mutations in
TMEM70
. Eleven centers from eight European countries, Turkey and Israel participated.
Resul...

Alternative Titles

Full title

TMEM70 deficiency: long-term outcome of 48 patients

Authors, Artists and Contributors

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Identifiers

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Record Identifier

TN_cdi_proquest_miscellaneous_1681260536

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1681260536

Other Identifiers

ISSN

0141-8955

E-ISSN

1573-2665

DOI

10.1007/s10545-014-9774-8

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