Found: 12
Select item for more details and to access through your institution.
Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 225, doi. 10.1034/j.1399-0004.1999.560308.x
- By:
- Publication type:
- Article
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 332, doi. 10.1034/j.1399-0004.1999.550506.x
- By:
- Publication type:
- Article
Immunohistochemical studies of c-reactive protein and apolipoprotein b in inflammatory and arterial lesions.
- Published in:
- Journal of Pathology, 1985, v. 145, n. 3, p. 241, doi. 10.1002/path.1711450305
- By:
- Publication type:
- Article
Agglutination of intravenous lipid emulsion ('Intralipid') and plasma lipoproteins by C-reactive protein.
- Published in:
- Clinical & Experimental Immunology, 1986, v. 66, n. 1, p. 241
- By:
- Publication type:
- Article
Lipoprotein-X: a substrate for lecithin: cholesterol acyltransferase.
- Published in:
- European Journal of Clinical Investigation, 1977, v. 7, n. 3, p. 213, doi. 10.1111/j.1365-2362.1977.tb01600.x
- By:
- Publication type:
- Article
Adaptor protein Disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2751, doi. 10.1093/hmg/ddm232
- By:
- Publication type:
- Article
Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 9, p. 1161, doi. 10.1093/hmg/ddi128
- By:
- Publication type:
- Article
Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia.
- Published in:
- IUBMB Life, 2010, v. 62, n. 2, p. 125, doi. 10.1002/iub.299
- By:
- Publication type:
- Article
Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial Hypercholesterolaemia and a Common Polymorphism.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 9, p. 1325, doi. 10.1093/hmg/5.9.1325
- By:
- Publication type:
- Article
A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2125
- By:
- Publication type:
- Article
Characterization and tissue-specific expression of the human ‘very low density lipoprotein (VLDL) receptor’ mRNA.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 4, p. 531
- By:
- Publication type:
- Article
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-70
- By:
- Publication type:
- Article