Online Mendelian Inheritance in Man (OMIM) (2024)

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  14. Christiano, A. M., McGrath, J. A., Tan, K. C., Uitto, J. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am. J. Hum. Genet. 58: 671-681, 1996. [PubMed: 8644729]

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    See Also
    PDB101: Molecule of the Month: Collagen

  17. Cserhalmi-Friedman, P. B., McGrath, J. A., Mellerio, J. E., Romero, R., Salas-Alanis, J. C., Paller, A. S., Dietz, H. C., Christiano, A. M. Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Lab. Invest. 78: 1483-1492, 1998. [PubMed: 9881948]

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  27. Greenspan, D. S. The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene. Hum. Molec. Genet. 2: 273-278, 1993. [PubMed: 8499916] [Full Text: https://doi.org/10.1093/hmg/2.3.273]

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Online Mendelian Inheritance in Man (OMIM) (2024)
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