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Purine metabolism in Lesch‐Nyhan syndrome versus Kelley‐Seegmiller syndrome
Author(s) -
Mateos F. A.,
Puig J. G.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00735419
Subject(s) - lesch–nyhan syndrome , human genetics , medicine , endocrinology , biology , genetics , gene , hypoxanthine guanine phosphoribosyltransferase , mutant