Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis-Reference-Cited by-同舟云学术

Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis

Published:2019-05-20 Issue:10 Volume:120 Page:17180-17193
ISSN:0730-2312
Container-title:Journal of Cellular Biochemistry
language:en
Short-container-title:J Cell Biochem

Author:

Zirngibl Ralph A.¹,Wang Andrew¹,Yao Yeqi¹,Manolson Morris F.¹,Krueger Joerg²,Dupuis Lucie³,Mendoza‐Londono Roberto³,Voronov Irina¹^ORCID

Affiliation:

1. Faculty of Dentistry University of Toronto Toronto Ontario Canada

2. Division of Hematology/Oncology and Blood and Marrow Transplant The Hospital for Sick Children Toronto Ontario Canada

3. Division of Clinical and Metabolic Genetics, Department of Paediatrics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada

Funder

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcb.28979

Reference30 articles.

1. Osteopetrosis: genetics, treatment and new insights into osteoclast function

2. Osteopetrosis

3. Bone remodelling at a glance

4. Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology

5. The a3 Isoform of the 100-kDa V-ATPase Subunit Is Highly but Differentially Expressed in Large (≥10 Nuclei) and Small (≤5 Nuclei) Osteoclasts

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