Publications:

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Molecular Genetics & Genomic Medicine

Wong, Karen H Y KHY; Levy-Sakin, Michal M; Ma, Walfred W; Gonzaludo, Nina N; Mak, Angel C Y ACY; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Grenville, Zoe Z; Wong, Nicolas N; Kane, John P JP; Kwok, Pui-Yan PY; Malloy, Mary J MJ; Pullinger, Clive R CR

Publication Date: 2019-12

Variant appearance in text: LDLR: C63Y

PubMed Link: 31617323

Variant Present in the following documents:

• Main text
• MGG3-7-e1007.pdf

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Mutating a conserved cysteine in GPIHBP1 reduces amounts of GPIHBP1 in capillaries and abolishes LPL binding.

Journal Of Lipid Research

Allan, Christopher M CM; Jung, Cris J CJ; Larsson, Mikael M; Heizer, Patrick J PJ; Tu, Yiping Y; Sandoval, Norma P NP; Dang, Tiffany Ly P TLP; Jung, Rachel S RS; Beigneux, Anne P AP; de Jong, Pieter J PJ; Fong, Loren G LG; Young, Stephen G SG

Publication Date: 2017-07

Variant appearance in text: LDLR: C63Y

PubMed Link: 28476858

Variant Present in the following documents:

• Main text

View BVdb publication page