[HTML][HTML] Genotype-phenotype correlations in Lesch-Nyhan disease
R Fu, HA Jinnah - Journal of Biological Chemistry, 2012 - ASBMB
Lesch-Nyhan disease and its attenuated variants are caused by mutations in the HPRT1
gene, which encodes the purine recycling enzyme hypoxanthine-guanine
phosphoribosyltransferase. The mutations are heterogeneous, with more than 400 different
mutations already documented. Prior efforts to correlate variations in the clinical phenotype
with different mutations have suggested that milder phenotypes typically are associated with
mutants that permit some residual enzyme function, whereas the most severe phenotype is …
gene, which encodes the purine recycling enzyme hypoxanthine-guanine
phosphoribosyltransferase. The mutations are heterogeneous, with more than 400 different
mutations already documented. Prior efforts to correlate variations in the clinical phenotype
with different mutations have suggested that milder phenotypes typically are associated with
mutants that permit some residual enzyme function, whereas the most severe phenotype is …