Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): A further example of clinical heterogeneity in HPRT deficiencies.

Autor: Burgemeister, R., Rötzer, E., Gutensohn, W., Gehrke, M., Schiel, W.
Zdroj: Human Mutation; 1995, Vol. 5 Issue 4, p341-344, 4p
Databáze: Complementary Index