Publications:

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Journal Of Lipid Research

Vitali, Cecilia C; Bajaj, Archna A; Nguyen, Christina C; Schnall, Jill J; Chen, Jinbo J; Stylianou, Kostas K; Rader, Daniel J DJ; Cuchel, Marina M

Publication Date: 2022-03

Variant appearance in text: LCAT: 169G>C; Gly57Arg

PubMed Link: 35065092

Variant Present in the following documents:

• mmc1.pdf

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LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Lipids In Health And Disease

Mehta, Roopa R; Elías-López, Daniel D; Martagón, Alexandro J AJ; Pérez-Méndez, Oscar A OA; Sánchez, Maria Luisa Ordóñez MLO; Segura, Yayoi Y; Tusié, Maria Teresa MT; Aguilar-Salinas, Carlos A CA

Publication Date: 2021-07-13

Variant appearance in text: LCAT: 169G>C

PubMed Link: 34256778

Variant Present in the following documents:

• 12944_2021_Article_1498.pdf

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Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research

Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ

Publication Date: 2018-12

Variant appearance in text: LCAT: 169G>C; G57R

PubMed Link: 30333156

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LCAT: G57R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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