CC: CCSD:48365
AU: McInnes B; Potier M; Wakamatsu N; Melancon SB; Klavins MH; Tsuji S;
Mahuran DJ
TI: An unusual splicing mutation in the HEXB gene is associated with
dramatically different phenotypes in patients from different racial
backgrounds
CT: J Clin Invest (1992) 90: 306-314 [PMID:1386607]
BS: (CN) human, (disease) gangliosidosis
TN: GM2
MT: ganglioside
MT: glycolipid
MT: glycosphingolipid
SB: Westra B
DA: 19-03-1996
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