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Brown C.A., Mahuran D.J. Beta-hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. - Am.J.Hum.Genet., 1993, v. 53, p. 497-508.

Смотрите также:

  • Болезнь Тея-Сакса. Фенотип-заболевание