Gene: [11p154/SMPD1] sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase); Niemann-Pick disease A/B (sphingomyelin lipidosis);
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CAG |
About Niemann-Pick disease type C see GEM:18q11/NPC1 and 00/NPC2. |
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REF |
FOG,POL "Arias &: CCG, 51, (HGM10), 953, 1989 HIS,PAT,PHE,FOG "Brady RO: New Engl J Med, 275, 312-318, 1966 LOC "da Veiga Pereira L &: Genomics, 9, N2, 229-234, 1991 MUT "Ferlinz K &: AJHG, 56, 1343-1349, 1995 MUT "Ferlinz K &: BBRC, 179, 1187-1191, 1991 MUT "Ida H &: Hum Mut, 7, 65-67, 1996 LOC,CYG "Konrad, Wilson: CCG, 46, (HGM9), 641, 1987 MUT "Levran O &: Hum Mut, 2, 317-319, 1993 MUT "Levran O &: Blood, 80, 2081-2087, 1992 MUT "Levran O &: J Clin Invest, 88, 806-810, 1991a MUT "Levran O &: PNAS, 88, 3748-3752, 1991b HIS,PAT,PHE,FOG "Pfaendler U: Helv Med Acta, 20, 216-241, 1953 FUN "Santana P &: Cell, 86, 189-199, 1996 CLO,SEQ "Schuchman EH &: Genomics, 12, 197-205, 1992 PAT "Sperl W &: J Inherit Metab Dis, 17, 93-103, 1994 MUT "Takahashi T &: Hum Mut, 1, 70-71, 1992a MUT "Takahashi T &: JBC, 267, 12552-12558, 1992b HIS,PAT,PHE,FOG "Terry &: Am J Pathol, 30, 263-285, 1954 MUT "Vanier MT &: Hum Genet, 92, 325-330, 1993 LOC,CYG "Wilson, Konrad: AJHG, 41, A191, 1987 |
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KEY |
lys, neu, lip, mtbd |
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CLA |
coding, basic |
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LOC |
11 p15.4 |
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MIM |
MIM: 257200 |
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EZN |
ENZYME: 3.1.4.12 |
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