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Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature

BACKGROUND: A case of homozygous familial lecithin:cholesterol acyltransferase (LCAT) deficiency with a novel homozygous LCAT missense mutation (replacement of methionine by arginine at position 293 in the amino acid sequence of the LCAT protein) is reported. METHODS AND RESULTS: The probable diagno...

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Библиографические подробности
Опубликовано в: :	J Clin Lipidol
Главные авторы:	Roshan, Bijan, Ganda, Om P., DeSilva, Ranil, Ganim, Rose B., Ward, Edmund, Haessler, Sarah D., Polisecki, Eliana Y., Asztalos, Bela F., Schaefer, Ernst J.
Формат:	Artigo
Язык:	Inglês
Опубликовано:	2011
Предметы:	Article
Online-ссылка:	https://ncbi.nlm.nih.gov/pmc/articles/PMC4565181/ https://ncbi.nlm.nih.gov/pubmed/22108153 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jacl.2011.07.002
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Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature

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