A novel mutation in the COL12A1 gene
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference19 articles.
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2. Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils;Chiquet;Int. J. Biochem. Cell Biol.,2014
3. Heritability of clubfoot: a twin study;Engell;J. Child. Orthop.,2014
4. The pathogenesis of club foot. A histomorphometric and immunohistochemical study of fetuses;Fukuhara;J. Bone Joint Surg. Br.,1994
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1. The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction;Frontiers in Molecular Biosciences;2024-03-28
2. <i>COL12A1</i> Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy;Molecular Syndromology;2024
3. Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome;American Journal of Medical Genetics Part A;2023-06-23
4. Collagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease;Frontiers in Cell and Developmental Biology;2023-03-02
5. Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities;Genes;2022-11-15
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