A novel deletion/inversion mutation in t
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Ulla-Maija Koivisto; Kimmo Kontula
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Article
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1996
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John Wiley and Sons
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English
⚖ 896 KB
## 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