Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations

Atherosclerosis

Volumn 211, Issue 2, 2010, Pages 397-398

  Ng, David ^a,b   Spaulding, Emma ^a,b   Mullikin, James C ^a,b   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Familial hypercholesterolemia; Large scale medical sequencing; LDLR mutation

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

ATHEROSCLEROSIS; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE IDENTIFICATION; GENE MUTATION; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL;

AGED; ATHEROSCLEROSIS; DNA; FEMALE; GENE EXPRESSION REGULATION; GENETIC VARIATION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, LDL; TRYPTOPHAN;

EID: 77955242474     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2010.04.011     Document Type: Letter

References (6)

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