Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83–>stop) and LCAT (tyr156

Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83–>stop) and LCAT (tyr156–>asn).

Published:1993-01 Issue:1 Volume:34 Page:49-58
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Klein H G,Lohse P,Duverger N,Albers J J,Rader D J,Zech L A,Santamarina-Fojo S,Brewer HB

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference59 articles.

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3. Familial lecithin:cholesterol acyltransferase deficiency. Report of a third Norwegian family with two afflicted members;Gjone;Scand. J. Clin. Lab. Invest.,1974

4. Familial LCAT deficiency and fish-eye disease;Mclntyre;J. Inherited Metab. Dis.,1988

5. Lecithin:cholesterol acyltransferase deficiency: molecular analysis of a mutated allele;Taramelli;Hum. Genet.,1990

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