CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation (Q28114831)

GOA release 2020-03-11

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Marie-Cécile Nassogne

31

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Sebahattin Çırak

2

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Celia Medrano

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Geert van den Bogaart

Geert van den Bogaart

34

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Etienne Sokal

Etienne Sokal

32

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D Quelhas

Dulce Quelhas

18

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Peter Krawitz

Peter Krawitz

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Alexander Hoischen

15

Alexander Hoischen

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3 January 2017

42

Thorsten Marquardt

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3 January 2017

36

Martijn A. Huynen

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3 January 2017

Jos C. Jansen

1

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3 January 2017

Monique van Scherpenzeel

3

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Sharita Timal

4

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Janine Reunert

5

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Stephan Rust

6

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Belén Pérez

7

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Dorothée Vicogne

8

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3 January 2017

Yoshinao Wada

10

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3 January 2017

Angel Ashikov

11

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3 January 2017

Celia Pérez-Cerdá

12

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3 January 2017

Andrea Arnoldy

14

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Karin Huijben

16

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Gerry Steenbergen

17

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Luisa Diogo

19

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Daisy Rymen

20

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Jaak Jaeken

21

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Nathalie Guffon

22

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David Cheillan

23

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Lambertus P. van den Heuvel

24

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Yusuke Maeda

25

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Olaf Kaiser

26

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Ulrike Schara

27

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Patrick Gerner

28

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Marjolein A. W. van den Boogert

29

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Adriaan G. Holleboom

30

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Jody Salomon

33

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Joost P. H. Drenth

35

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Joris A. Veltman

37

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3 January 2017

Ron A. Wevers

38

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3 January 2017

Eva Morava

39

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3 January 2017

Gert Matthijs

40

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François Foulquier

41

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3 January 2017

Dirk J. Lefeber

American Journal of Human Genetics

43

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3 January 2017

language of work or name

English

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publication date

4 February 2016

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3 January 2017

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98

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310–321

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2

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describes a project that uses

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4746332/fullTextXML

inferred from PubMed Central ID database lookup

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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

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