{{Rsnum
|rsid=137943601
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=LDLR
|position=11113313
|Gene_s=LDLR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=137943601
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=11223989
|CHROM=19
|dbSNPBuildID=134
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|GENEINFO=LDLR:3949
|GENE_NAME=LDLR
|GENE_ID=3949
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.11223989G>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=5
|CLNDBN=Familial hypercholesterolemia
|Disease=Familial hypercholesterolemia
|Tags=PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000030125.1
|CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0020445:143890:144400:397915002:398036000
}}{{PMID Auto
|PMID=122051
|Title=(1-14C) acetate assimilation by obligate methylotrophs, Pseudomonas methanica and Methylosinus trichosporium.
}}

{{PMID Auto
|PMID=3931803
|Title=Treatment of homozygous familial hypercholesterolaemia: an informative sibship.
|OA=1
}}

{{PMID Auto
|PMID=17094996
|Title=Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
}}

{{PMID Auto
|PMID=17539906
|Title=Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
}}

{{PMID Auto
|PMID=18700895
|Title=Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
}}

{{PMID Auto
|PMID=19026292
|Title=Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.
}}