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Substitution of lysine for arginine at position 199 of a hypoxanthine phosphoribosyltransferase interferes with binding of the primary substrate to the active site

โœ Scribed by Sydney P Craig III; Pamela J Focia; Robert J Fletterick


Book ID
114149428
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
241 KB
Volume
1339
Category
Article
ISSN
0167-4838

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A substitution of arginine for glycine at amino acid position 154 of the al(1) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and IIUIV osteogenesis imperfecta, but appears to be milder than that of the previously describ