Millat G.,2001a


Millat G., Marcais C., Tomasetto C., Chikh K., Fenson A.H., Harzer K., Wenger D.A., Ohno K., Vanier M.T. Niemann-Pick disease: correlation between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and the cysteine-rich luminal loop. - Am.J.Hum.Genet., 2001, v. 68, p. 1373-1385.

Смотрите также:

  • Болезнь Нимана-Пика. Фенотип