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npc1
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- The NPC1 gene provides instructions for making a protein that is located within the membrane of compartments in the ... cell membranes. More than 380 mutations in the NPC1 gene have been found to cause Niemann-Pick ...
- ... types A and B.Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease type ... in Niemann-Pick disease types C1 and C2. NPC1 NPC2 SMPD1 This condition is inherited in an ...
