Gene symbol: GALC. Disease: Krabbe disease.
Zakharova
Ekaterina
E
Research Centre for Medical Genetics, Laboratory of Inherited Metabolic Disorders, 115478 Moscow, Russian Federation.
Boukina
T M
TM
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D005698:Galactosylceramidase / Q000235:genetics*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000208:ethnology / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D012426:Russia
D003062:Codon; D005698:Galactosylceramidase