Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.
Ng
David
D
Spaulding
Emma
E
Mullikin
James C
JC
Biesecker
Leslie G
LG
D000368:Aged; D050197:Atherosclerosis / Q000235:genetics; D004247:DNA / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D014644:Genetic Variation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics
D011973:Receptors, LDL; D014364:Tryptophan; D004247:DNA
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