Defining neurogenetic phenotypes (or how to compare needles in haystacks).
Chinnery
Patrick F
PF
Institutes for Ageing and Health and Human Genetics, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. P.F.Chinnery@ncl.ac.uk
D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics; D003937:Diagnosis, Differential; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype
D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D007041:Hypoxanthine Phosphoribosyltransferase