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A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.
Jensen HK, Holst H, Jensen LG, Jørgensen MM, Andreasen PH, Jensen TG, Andresen BS, Heath F, Hansen PS, Neve S, Kristiansen K, Faergeman O, Kølvraa S, Bolund L, Gregersen N. Jensen HK, et al. Among authors: andreasen ph. Atherosclerosis. 1997 May;131(1):67-72. doi: 10.1016/s0021-9150(96)06059-5. Atherosclerosis. 1997. PMID: 9180246
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.
Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Siggaard C, et al. Among authors: andreasen ph. J Clin Endocrinol Metab. 1999 Aug;84(8):2933-41. doi: 10.1210/jcem.84.8.5869. J Clin Endocrinol Metab. 1999. PMID: 10443701
24 results