Open AccessAttenuated variants of Lesch-Nyhan disease: the case of King James VI/I
Author(s) -
Peter Garrard,
John Stephenson,
Vijeya Ganesan,
T. J. Peters
Publication year - 2010
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awq156
Subject(s) - hypoxanthine guanine phosphoribosyltransferase , lesch–nyhan syndrome , uric acid , disease , hypoxanthine phosphoribosyltransferase , phenotype , phosphoribosyltransferase , pediatrics , hypoxanthine , medicine , differential diagnosis , genetics , gene , biology , pathology , biochemistry , enzyme , mutant
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