Publications:

Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry.

Frontiers In Genetics

Truong, Thanh-Huong TH; Do, Doan-Loi DL; Kim, Ngoc-Thanh NT; Nguyen, Mai-Ngoc Thi MT; Le, Thanh-Tung TT; Le, Hong-An HA

Publication Date: 2020

Variant appearance in text: PCSK9: 42_43insTG; Leu15fs

PubMed Link: 32922439

Variant Present in the following documents:

• Main text

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs371488778

PubMed Link: 31397093

Variant Present in the following documents:

• Main text

View BVdb publication page