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Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).
Klein HG, Lohse P, Pritchard PH, Bojanovski D, Schmidt H, Brewer HB Jr. Klein HG, et al. Among authors: pritchard ph. J Clin Invest. 1992 Feb;89(2):499-506. doi: 10.1172/JCI115612. J Clin Invest. 1992. PMID: 1737840 Free PMC article.
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.
Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B, Gerdes U, et al. Funke H, et al. Among authors: pritchard ph. J Clin Invest. 1993 Feb;91(2):677-83. doi: 10.1172/JCI116248. J Clin Invest. 1993. PMID: 8432868 Free PMC article.
A unique genetic and biochemical presentation of fish-eye disease.
Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ. Kuivenhoven JA, et al. Among authors: pritchard ph. J Clin Invest. 1995 Dec;96(6):2783-91. doi: 10.1172/JCI118348. J Clin Invest. 1995. PMID: 8675648 Free PMC article.
Two novel molecular defects in the LCAT gene are associated with fish eye disease.
Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH. Kuivenhoven JA, et al. Among authors: pritchard ph. Arterioscler Thromb Vasc Biol. 1996 Feb;16(2):294-303. doi: 10.1161/01.atv.16.2.294. Arterioscler Thromb Vasc Biol. 1996. PMID: 8620346 Free article. Review.
138 results