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Zhou, V. COL6A1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5218 (accessed on 22 September 2026).
Zhou V. COL6A1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5218. Accessed September 22, 2026.
Zhou, Vicky. "COL6A1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5218 (accessed September 22, 2026).
Zhou, V. (2020, December 24). COL6A1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5218
Zhou, Vicky. "COL6A1 Gene." Encyclopedia. Web. 24 December, 2020.
COL6A1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/col6a1

collagen type VI alpha 1 chain

genes

References

  1. Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. ColVImyopathies: where do we stand, where do we go? Skelet Muscle. 2011 Sep 23;1:30.doi: 10.1186/2044-5040-1-30.
  2. Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP,Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, JacobsonR, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.Molecular consequences of dominant Bethlem myopathy collagen VI mutations. AnnNeurol. 2007 Oct;62(4):390-405.
  3. Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93.
  4. Bushby KM, Collins J, Hicks D. Collagen type VI myopathies. Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12. Review.
  5. Bönnemann CG. The collagen VI-related myopathies: muscle meets its matrix. NatRev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review.
  6. Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, UrtizbereaA, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Detection of common andprivate mutations in the COL6A1 gene of patients with Bethlem myopathy.Neurology. 2005 Jun 14;64(11):1931-7.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vicky Zhou
View Times: 803
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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