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Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
Jensen HK, Jensen TG, Faergeman O, Jensen LG, Andresen BS, Corydon MJ, Andreasen PH, Hansen PS, Heath F, Bolund L, Gregersen N. Jensen HK, et al. Among authors: jensen tg, jensen lg. Hum Mutat. 1997;9(5):437-44. doi: 10.1002/(SICI)1098-1004(1997)9:5<437::AID-HUMU10>3.0.CO;2-3. Hum Mutat. 1997. PMID: 9143924
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: jensen tg, jensen lg. Atherosclerosis. 1997 May;131(1):67-72. doi: 10.1016/s0021-9150(96)06059-5. Atherosclerosis. 1997. PMID: 9180246
336 results