sMutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease (Q90126384)

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11 April 2020

title

sMutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease (English)

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11 April 2020

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congenital disorder of glycosylation

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11 April 2020

Magda Cannata Serio

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11 April 2020

Laurie A Graham

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11 April 2020

Angel Ashikov

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11 April 2020

Lars Elmann Larsen

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11 April 2020

Kimiyo Raymond

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Sharita Timal

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11 April 2020

Gwenn Le Meur

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11 April 2020

Margret Ryan

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11 April 2020

Elzbieta Czarnowska

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Jos C Jansen

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11 April 2020

Miao He

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Can Ficicioglu

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Pavel Pichurin

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Linda Hasadsri

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W Alfredo Ríos-Ocampo

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Christian Gilissen

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Richard Rodenburg

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Johan W Jonker

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Eva Morava

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Joris A Veltman

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Piotr Socha

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11 April 2020

Tom H Stevens

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11 April 2020

Matias Simons

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Dirk J Lefeber

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publication date

7 March 2020

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11 April 2020

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Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology

11 April 2020

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The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels

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12 December 2020