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Results 1 - 2 of 2 for "Ehlers-Danlos" "syndrome," classic type
  1. COL5A1 gene 
    ... De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010 Oct;12(10):597-605. ... peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos ... analysis demonstrates type V collagen mutations in over 90% of patients ...
    https://medlineplus.gov/genetics/gene/col5a1 - Genetics
  2. COL5A2 gene 
    ... De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Citation on PubMed ... assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998 Feb; ...
    https://medlineplus.gov/genetics/gene/col5a2 - Genetics