CC: CCSD:7874
AU: Akli S; Chomel JC; Lacorte JM; Bachner L; Poenaru A; Poenaru L
TI: Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients
CT: Hum Mol Genet (1993) 2: 61-67 [PMID:8490625]
BS: (CN) human, (disease) gangliosidosis
TN: GM2
MT: ganglioside
MT: glycolipid
MT: glycosphingolipid
SB: Doubet S
DA: 23-11-1993
FC: f7673cea
SI: CBank:16359
----------------
structure:
b-D-GalpNAc-(1-4)+
|
b-D-Galp-(1-4)-b-D-Glcp-(1-1)-Ceramide
|
a-D-Neup5Ac-(2-3)+
================end of record