Associated Papers
Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.
Taghizadeh E et al.
Biochemical Genetics, 2022
In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.
Saleha S et al.
International Journal of Ophthalmology, 2016
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
Rong W et al.
Plos One, 2014
24831256 (PubMed )
Supplement: pone.0097808.s003.xlsx › HD69_HD70
A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
Huertas-Vazquez A et al.
Human Genetics, 2010
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