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Volumn 106, Issue 2, 1999, Pages 87-92

Post mortem molecularly defined familial hypercholesterolemia and sudden cardiac death of young men

Author keywords

Atherosclerosis; DNA; Familial hypercholesterolemia; Post mortem; Sudden death

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 0032713555     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0379-0738(99)00149-8     Document Type: Article
Times cited : (11)

References (13)
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    • Finnish type of low density lipoprotein receptor mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype
    • Aalto-Setälä K., Helve E., Kovanen P.T., Kontula K. Finnish type of low density lipoprotein receptor mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. J. Clin. Invest. 84:1989;305-307.
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    • Koivisto U.M., Turtola H., Aalto-Setälä K., Top B., Frants R.R., Kontula K. The familial hypercholesterolemia (FH) North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. J. Clin. Invest. 90:1992;219-228.
    • (1992) J. Clin. Invest. , vol.90 , pp. 219-228
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    • Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: Identification of two common missense mutations (Gly823-asp and Leu380-His) and eight rare mutations of the LDL receptor gene
    • Koivisto U.M., Viikari J.S., Kontula K. Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-asp and Leu380-His) and eight rare mutations of the LDL receptor gene. Am. J. Hum. Genet. 57:1995;789-797.
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    • Lahti R.A., Sarna S., Penttilä A. Exploitation of autopsy in determining natural cause of death: trends in Finland with special reference to the diagnostics of ischemic heart disease and cerebrovascular diseases in middle-aged males, 1974-1993. Forensic Sci. Int. 91:1998;109-121.
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    • Vuorio A.F., Paulin L., Turtola H., Kontula K. Deletions of the low density lipoprotein receptor gene underlying familial hypercholesterolaemia: screening by polymerase chain reaction using pooled DNA and blood samples. Mol Cell Probes. 11:1997;65-70.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.