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A novel arginine‐to‐cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype
Author(s) -
Lund AM,
Joensen F,
Christensen E,
Dunø M,
Skovby F,
Schwartz M
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00926.x
Subject(s) - osteogenesis imperfecta , ehlers–danlos syndrome , arginine , phenotype , cysteine , triple helix , genetics , chemistry , medicine , gene , biology , biochemistry , pathology , amino acid , enzyme