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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 4, 2023. (Total: 223640Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Efficiency and FH[original query]
Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2002 May 40 (5): 441-5.
Salazar Luis A, Hirata Mario H, Hirata Rosario D
Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
The Journal of clinical endocrinology and metabolism 2007 Sep 92 (9): 3667-73.
García-Otín A L, Cofán M, Junyent M, Recalde D, Cenarro A, Pocoví M, Ros E, Civeira
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2011 Apr 19 (4): 175-182.
Kusters D M, Huijgen R, Defesche J C, Vissers M N, Kindt I, Hutten B A, Kastelein J J
Array-based resequencing for mutations causing familial hypercholesterolemia.
Atherosclerosis 2011 Jun 216 (2): 383-9.
Chiou Kuan-Rau, Charng Min-Ji, Chang Hua-M
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Molecular genetics & genomic medicine 2018 12 7 (2): e00520.
Chan Melody Lok-Yi, Cheung Ching-Lung, Lee Alan Chun-Hong, Yeung Chun-Yip, Siu Chung-Wah, Leung Jenny Yin-Yan, Pang Ho-Kwong, Tan Kathryn Choon-Be
The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.
Frontiers in genetics 2022 8 13 927504.
Diboun Ilhame, Al-Sarraj Yasser, Toor Salman M, Mohammed Shaban, Qureshi Nadeem, Al Hail Moza S H, Jayyousi Amin, Al Suwaidi Jassim, Albagha Omar M
Multiparametric platform for profiling lipid trafficking in human leukocytes.
Cell reports methods 2022 4 2 (2): 100166.
Pfisterer Simon G, Brock Ivonne, Kanerva Kristiina, Hlushchenko Iryna, Paavolainen Lassi, Ripatti Pietari, Islam Mohammad Majharul, Kyttälä Aija, Di Taranto Maria D, Scotto di Frega Annalisa, Fortunato Giuliana, Kuusisto Johanna, Horvath Peter, Ripatti Samuli, Laakso Markku, Ikonen Eli
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