✦ LIBER ✦

C15 Two novel mutations of the lecithin:cholesterol acyltransferase (LCAT) gene causing familial LCAT deficiency (FLD): Section 2

✍ Scribed by M Rolleri; A Cantafora; G Franceschini; L Calabresi; G Boscutti; R Mioni; S Pizzolitto; S Bertolini

Book ID: 119439608
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 146 KB
Volume: 145
Category: Article
ISSN: 0021-9150
DOI: 10.1016/s0021-9150(99)90118-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

C14 Two novel mutations of the lecithin:

C14 Two novel mutations of the lecithin:cholesterol acyltransferase (LCAT) gene causing familial LCAT deficiency (FLD): Section 1

✍ M Rolleri; A Cantafora; G Franceschini; L Calabresi; G Boscutti; R Mioni; S Pizz 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 146 KB

Two novel frame shift mutations in lecit

Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype

✍ Cheol Whee Park; Mi-Hyun Lim; Dong-Ye Youn; Seung Eun Jung; Sungjin Chung; Young 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 416 KB

Identification of the homozygous missens

Identification of the homozygous missense mutation in the lecithin: cholesterol-acyltransferase (LCAT) gene, causing LCAT familial deficiency in two French patients

✍ Ian Dorval; Pascal Jezequel; Christèle Dubourg; Bruno Chauvel; Patrick Le Pogamp 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 290 KB

Complete deficiency of plasma lecithin-c

Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene

✍ James S. Owen; Heiko Wiebusch; Paul Cullen; Gerald F. Watts; Vera L.M. Lima; Har 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 401 KB 👁 2 views

Communicated by Edward G. D. Tuddenhum Epidemiological studies indicate a strong relationship between low levels of circulating highdensity lipoproteins (HDL) and premature coronary heart disease (Gordon and Rifkind, 1989). Paradoxically, several rare, inherited low-HDL syndromes exist without appar

Molecular defect in familial lecithin:Ch

Molecular defect in familial lecithin:Cholesterol acyltransferase (LCAT) deficiency: A single nucleotide insertion in LCAT gene causes a complete deficient type of the disease

✍ Hideaki Bujo; Jun Kusunoki; Masahito Ogasawara; Tokuo Yamamoto; Yoshiaki Ohta; T 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 702 KB

T→G or T→A mutation introduced in the br

T→G or T→A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency

✍ Min Li; Jan Albert Kuivenhoven; Amir F Ayyobi; P.Haydn Pritchard 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 376 KB