Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1

Author:

El Khoury Petra,Couvert Philippe,Elbitar SandyORCID,Ghaleb Youmna,Abou-Khalil Yara,Azar Yara,Ayoub Carine,Superville Alexandre,Guérin Maryse,Rabès Jean-Pierre,Varret Mathilde,Boileau CatherineORCID,Jambart Selim,Giral Philippe,Carrié Alain,Le Goff Wilfried,Abifadel Marianne

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference65 articles.

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3. Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients;Khachadurian;Nutr Metab,1973

4. The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum;Lehrman;J Biol Chem,1987

5. Epidemiological study of hyperlipemia in a Lebanese population;Aydenian;Ann Biol Clin,1999

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