Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.
Chin
Ephrem
E
Human Genetics, Emory University, Decatur, USA. elchin@emory.edu
Bean
L
L
Coffee
B
B
Hegde
M R
MR
D001483:Base Sequence; D003062:Codon; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013661:Tay-Sachs Disease / Q000235:genetics*; D054820:beta-Hexosaminidase alpha Chain / Q000235:genetics*
D003062:Codon; D009711:Nucleotides; C518253:HEXA protein, human; D054820:beta-Hexosaminidase alpha Chain