## 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
The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia
β Scribed by P. Lombardi; Eric J. G. Sijbrands; Sylvia Kamerling; Jan A. Gevers Leuven; Louis M. Havekes
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 116 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0340-6717
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