Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome) (Q24672287)

Jakub Sikora

11

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Martin Hrebicek

Martin Hrebícek

1

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Ron A. Wevers

Ron A Wevers

24

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Jiri Zeman

Jirí Zeman

14

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Kenneth Morgan

28

Kenneth Morgan

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Lenka Mrázová

Lenka Mrázová

2

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David Roquis

David Roquis

16

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Robert Ivánek

Robert Ivánek

8

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Viktor Stránecký

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Pshezhetsky AV

1 reference

ORCID Public Data File 2021

Alexey V Pshezhetsky

30

Alexey V Pshezhetsky

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Thomas J. Hudson

25

Thomas J Hudson

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author name string

Volkan Seyrantepe

3

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Stéphanie Durand

4

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Nicole M Roslin

5

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Lenka Nosková

6

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Hana Hartmannová

7

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Alena Cízkova

9

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Helena Poupetová

10

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Jana Urinovská

12

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Viktor Stranecký

13

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Pierre Lepage

15

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Jérome Ausseil

18

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Clare E Beesley

19

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Irène Maire

20

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Ben J H M Poorthuis

21

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Jiddeke van de Kamp

22

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Otto P van Diggelen

23

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T Mary Fujiwara

26

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Jacek Majewski

27

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Stanislav Kmoch

American Journal of Human Genetics

29

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language of work or name

English

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publication date

November 2006

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published in

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volume

79

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issue

5

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page(s)

807-19

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describes a project that uses

limma

1 reference

Europe PubMed Central

22 June 2022

https://europepmc.org/article/PMC/1698556

inferred from PubMed Central ID database lookup

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Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

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Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts

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The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients

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An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC.

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12 December 2020

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Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals

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Identifiers

DOI

10.1086/508294

1 reference

1 reference

1 reference

PubMed publication ID

17033958

1 reference