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.
Burgemeister
R
R
Institut für Anthropologie and Humangenetik, München, Germany.
Rötzer
E
E
Gutensohn
W
W
Gehrke
M
M
Schiel
W
W
D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D018740:Genetic Heterogeneity; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
D007041:Hypoxanthine Phosphoribosyltransferase