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1.P.264 Two novel mutations in the lecithin:cholesterol acyltransferase gene in a subject with corneal opacities and low high-density lipoprotein cholesterol

✍ Scribed by J. Stocks; M.N. Nanjee; N.E. Miller

Book ID: 119437311
Publisher: Elsevier Science
Year: 1997
Tongue: English
Weight: 190 KB
Volume: 134
Category: Article
ISSN: 0021-9150
DOI: 10.1016/s0021-9150(97)88443-2

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## Communicated by H. H. Dahl We report two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene that lead to familial hypercholesterolemia in separate lineages. The lesions, FH-Sydney 1 and FH-Sydney 2, were detected by a modified heteroduplex analysis of exon-specif