Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2
Author:
Funder
Golestan University of Medical Sciences
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11033-023-08644-6.pdf
Reference27 articles.
1. Chiquet M, Birk DE, Bönnemann CG, Koch M, Collagen XII (2014) Protecting bone and muscle integrity by organizing collagen fibrils. Int J Biochem Cell Biol 53:51–54
2. Snellman A, Keränen M-R, Hägg PO, Lamberg A, Hiltunen JK, Kivirikko KI et al (2000) Type XIII collagen forms homotrimers with three triple helical collagenous domains and its association into disulfide-bonded trimers is enhanced by prolyl 4-hydroxylase. J Biol Chem 275(12):8936–8944
3. Keesler DA, Slobodianuk TL, Kochelek CE, Skaer CW, Haberichter SL, Flood VH (2021) Fibronectin binding to von Willebrand factor occurs via the A1 domain. Res Pract Thromb Haemostasis 5(5):e12534
4. Bardakov SN, Deev RV, Magomedova RM, Umakhanova ZR, Allamand V, Gartioux C et al (2021) Intrafamilial phenotypic variability of collagen VI-related myopathy due to a new mutation in the COL6A1 gene. J Neuromuscul Dis 8(2):273–285
5. Kutluk MG, Kadem N, Bektas O, Randa NC, Tuncer GO, Albayrak P et al (2021) A novel variant of COL6A2 gene causing bethlem myopathy and evaluation of essential hypertension. Ann Indian Acad Neurol 24(2):280
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