Publications:

Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Journal Of Clinical Laboratory Analysis

Qin, Yuan-Yuan YY; Wei, Ai-Qiu AQ; Shan, Qing-Wen QW; Xian, Xiao-Ying XY; Wu, Yang-Yang YY; Liao, Lin L; Yan, Jie J; Lai, Zhan-Feng ZF; Lin, Fa-Quan FQ

Publication Date: 2018-07

Variant appearance in text: LPL: Arg270Gly

PubMed Link: 29479812

Variant Present in the following documents:

• Main text

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Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

Global Pediatric Health

Vidanapathirana, Dinesha Maduri DM; Rodrigo, Thushara T; Waidyanatha, Samantha S; Jasinge, Eresha E; Hooper, Amanda J AJ; Burnett, John R JR

Publication Date: 2017

Variant appearance in text: LPL: 808C>G; Arg270Gly

PubMed Link: 28695157

Variant Present in the following documents:

• Main text
• 10.1177_2333794X17715839.pdf

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Implementation of genomic medicine in Sri Lanka: Initial experience and challenges.

Applied & Translational Genomics

Sirisena, Nirmala D ND; Neththikumara, Nilaksha N; Wetthasinghe, Kalum K; Dissanayake, Vajira H W VH

Publication Date: 2016-06

Variant appearance in text: LPL: Arg270Gly

PubMed Link: 27354939

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page