S68036[Secondary Source ID] - Search Results

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Identification and characterization of the tuberous sclerosis gene on chromosome 16.

European Chromosome 16 Tuberous Sclerosis Consortium. European Chromosome 16 Tuberous Sclerosis Consortium. Cell. 1993 Dec 31;75(7):1305-15. doi: 10.1016/0092-8674(93)90618-z. Cell. 1993. PMID: 8269512

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG. Pollak MR, et al. Cell. 1993 Dec 31;75(7):1297-303. doi: 10.1016/0092-8674(93)90617-y. Cell. 1993. PMID: 7916660

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).

Steimle V, Otten LA, Zufferey M, Mach B. Steimle V, et al. Cell. 1993 Oct 8;75(1):135-46. Cell. 1993. PMID: 8402893

In vitro protein splicing of purified precursor and the identification of a branched intermediate.

Xu MQ, Southworth MW, Mersha FB, Hornstra LJ, Perler FB. Xu MQ, et al. Cell. 1993 Dec 31;75(7):1371-7. doi: 10.1016/0092-8674(93)90623-x. Cell. 1993. PMID: 8269515

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