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A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects

✍ Scribed by Olaug K. Rødningen; Oddveig Røshy; Serena Tonstad; Leiv Ose; Kåre Berg; Trond P. Leren

Book ID: 115090342
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 960 KB
Volume: 42
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1992.tb03258.x

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## Communicated fq L e n a Peltonen A combined deletiodinversion rearrangement of the LDL receptor gene was discovered in a Finnish patient with heterozygous familial hypercholesterolemia (FH). Sequence analysis of the mutated allele revealed an insertion of 4 nucleotides in exon 11, caused by a c