NPC1
NPC intracellular cholesterol transporter 1
Ассоциированные заболевания
Герминативная мутация (причина)5
Niemann-Pick disease type C, severe perinatal formORPHA:216972
→Niemann-Pick disease type C, late infantile neurologic onsetORPHA:216978
→Niemann-Pick disease type C, severe early infantile neurologic onsetORPHA:216975
→Niemann-Pick disease type C, adult neurologic onsetORPHA:216986
→Niemann-Pick disease type C, juvenile neurologic onsetORPHA:216981
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