✦ LIBER ✦

A novel missense mutation (Asn5→Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency

✍ Scribed by M. Okubo; Y. Aoyama; H. Shio; J. J. Albers; T. Murase

Book ID: 110581083
Publisher: Springer
Year: 1996
Tongue: English
Weight: 469 KB
Volume: 26
Category: Article
ISSN: 0940-5437
DOI: 10.1007/bf02602958

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Lecithin-cholesterol acyltransferase (LC

Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene

✍ Eiichi Maeda; Yoshiko Naka; Takashi Matozaki; Maki Sakuma; Yasuo Akanuma; Gen Yo 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 964 KB

94 A novel mutation of LCAT gene in a Pa

94 A novel mutation of LCAT gene in a Pakistani patient with lecithin: Cholesterol acyltransferase deficiency

📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 156 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

Novel missense variants in LCAT and APOB

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia

✍ Paola Conca; Silvana Pileggi; Sara Simonelli; Emanuela Boer; Giuliano Boscutti; 📂 Article 📅 2012 🏛 Elsevier 🌐 English ⚖ 397 KB