Gene: [00.0/NPC2] Niemann-Pick disease, type C2 (minor form);

REF

HET,PAT "Steinberg SJ &: J Med Genet, 31, 317-320, 1994
HET,PAT "Vanier MT &: AJHG, 58, 118-125, 1996

CLA

unknown, basic

LOC

RS

MIM

MIM: 601015

Ссылки: