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

Смотрите также:

  • Gene: [18q11/NPC1] intracellular cholesterol transport regulator?; Niemann-Pick disease, type C1 (major form); [NPC ]