Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.

Authors :: Yamada Y
Nomura N
Kitoh H
Wakamatsu N
Ogasawara N
Source :: Advances in experimental medicine and biology [Adv Exp Med Biol] 2000; Vol. 486, pp. 29-33.
Publication Year :: 2000

Subjects :: Aged
Exons
Gout genetics
Gout physiopathology
Humans
Hypoxanthine Phosphoribosyltransferase deficiency
Japan
Lesch-Nyhan Syndrome genetics
Lesch-Nyhan Syndrome physiopathology
Male
Mutation, Missense
Phenotype
Point Mutation
Gout enzymology
Hypoxanthine Phosphoribosyltransferase genetics
Lesch-Nyhan Syndrome enzymology
Mutation

Full Text Access

Tools