Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations

Familial lecithin:cholesterol acyltransferase deficiency (FLD) is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, low high-density lipoprotein cholesterol (HDL-C) and proteinuria. Two novel lecithin:cholesterol acyltransferase (LCAT) mutations[c.278 C>T (p.Pro6...

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Bibliografski detalji
Izdano u:NDT Plus
Glavni autori: Katayama, Akihiro, Wada, Jun, Kataoka, Hitomi Usui, Yamasaki, Hiroko, Teshigawara, Sanae, Terami, Takahiro, Inoue, Kentaro, Kanzaki, Motoko, Murakami, Kazutoshi, Nakatsuka, Atsuko, Sugiyama, Hitoshi, Koide, Norio, Bujo, Hideaki, Makino, Hirofumi
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2011
Teme:
II. Clinical Reports
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4421733/
https://ncbi.nlm.nih.gov/pubmed/25984174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndtplus/sfr091
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