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Article

Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.

The journal of gene medicine - 1 Jun 2020

Shaik Noor A, Al-Qahtani Faten, Nasser Khalidah, Jamil Kaiser, Alrayes Nuha Mohammad, Elango Ramu, Awan Zuhier Ahmed, Banaganapalli Babajan

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a lipid disorder caused by pathogenic mutations in LDLRAP1 gene. The present study has aimed to deepen our understanding about the pathogenicity predictions of FH causative genetic mutations, as well as their relationship to phenotype changes in LDLRAP1 protein, by utilizing multidirectional computational analysis. METHODS: FH linked LDLRAP1 mutations were mined...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32073192
DOI: 10.1002/jgm.3176

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