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    Hum Mol Genet. 1994 Mar;3(3):511-2.

    Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.

    Source

    Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107.

    PMID:
    7912131
    [PubMed - indexed for MEDLINE]

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