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: 512G>A; Arg171Gln

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: 512G>A

PubMed Link: 34256778

Variant Present in the following documents:

• 12944_2021_Article_1498.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: LCAT: 512G>A; Arg171Gln; rs1174450111

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency.

Journal Of Clinical Medicine

Lamiquiz-Moneo, Itziar I; Civeira, Fernando F; Gómez-Coronado, Diego D; Blanco-Vaca, Francisco F; Villafuerte-Ledesma, Hilda Mercedes HM; Gil, Miriam M; Amigó, Nuria N; Mateo-Gallego, Rocío R; Cenarro, Ana A

Publication Date: 2019-11-03

Variant appearance in text: LCAT: 512G>A

PubMed Link: 31684177

Variant Present in the following documents:

• Main text
• jcm-08-01860.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: 512G>A; R171Q

PubMed Link: 30333156

Variant Present in the following documents:

• Main text

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