title: Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.
authors: Human Genetics, Emory University, Decatur, USA. elchin@emory.edu
authors: Ephrem
authors: E
authors: Chin
authors: L
authors: L
authors: Bean
authors: B
authors: B
authors: Coffee
authors: M R
authors: MR
authors: Hegde
mesh_terms: 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*
chemical_list: D003062:Codon; D009711:Nucleotides; C518253:HEXA protein, human; D054820:beta-Hexosaminidase alpha Chain