Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population-Reference-Cited by-同舟云学术

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Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population

Published:2000-06 Issue:6 Volume:8 Page:431-436
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Haagerup Annette,Hertz Jens M,Christensen Mogens F,Binderup Helle,Kruse Torben A

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5200481.pdf

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pycnodysostosis: Characteristics of teeth, mouth and jaws;Orthodontics & Craniofacial Research;2024-03-26

2. Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress;Antioxidants;2023-11-21

3. Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach;Journal of Biomolecular Structure and Dynamics;2023-05-31

4. Cathepsin K in Pathological Conditions and New Therapeutic and Diagnostic Perspectives;International Journal of Molecular Sciences;2022-11-09

5. Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease;Genes;2021-09-29

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