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Rian J. Pillitteri
University of Medicine and Dentistry of New Jersey
Triple helixCollagen helixAlport syndromeType IV collagenType I collagen
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#1Anton V. Persikov (UMDNJ: University of Medicine and Dentistry of New Jersey)H-Index: 19
#2Rian J. Pillitteri (UMDNJ: University of Medicine and Dentistry of New Jersey)H-Index: 1
Last. Barbara Brodsky (UMDNJ: University of Medicine and Dentistry of New Jersey)H-Index: 47
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A missense mutation leading to the replacement of one Gly in the (Gly-Xaa-Yaa)n repeat of the collagen triple helix can cause a range of heritable connective tissue disorders that depend on the gene in which the mutation occurs. Osteogenesis imperfecta results from mutations in type I collagen, Ehlers-Danlos syndrome type IV from mutations in type III collagen, Alport syndrome from mutations in type IV collagen, and dystrophic epidermolysis bullosa from mutations in type VII collagen. The predic...
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