Journal: Clinical Science (London, England : 1979)

Article Title: Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

doi: 10.1042/CS20130326

Figure Lengend Snippet: CUL3 and KLHL3 variants segregating with the FHHt phenotype in each pedigree The zygosity of affected individuals within each pedigree for the causative variant is shown. Conservation describes the KLHL3 amino acid residues conserved across species expressed as the proportion of species sharing the same reference allele in primates (P), mammals (M) and vertebrates (V) (Ensemble KLHL3 paralogues; available at http://www.ensembl.org/Homo_sapiens/Gene/Compara_Ortholog?g=ENSG00000146021;r=5:136953189-137071779 ). The country of origin of each pedigree is also shown. Variants are described according to Human Genome Variation Society (HGVS) standard nomenclature using the reference sequences listed in Supplementary Table S2 (at http://www.clinsci.org/cs/126/cs1260721add.htm ). *Previously undescribed variants; **previously undescribed genotype.

Article Snippet: PCR amplicons covering all coding exons and exon/intron boundaries were prepared from genomic DNA (Fluidigm Access ArrayTM; the amplicons used are listed in Supplementary Table S1 at http://www.clinsci.org/cs/126/cs1260721add.htm ) and sequenced on the Illumina HiSeq platform.

Techniques: Variant Assay