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Intronic mutations at splice junctions in the low-density lipoprotein receptor gene

✍ Scribed by AV Peeters; R Thiart; JNP de Villiers; HK Jensen; LF Van Gaal; MJ Kotze


Book ID
115638315
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
86 KB
Volume
13
Category
Article
ISSN
0890-8508

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Identification of a splice-site mutation
✍ Bert Top; AndrΓ© Zee; Louis M. Havekes; Ferdinand M. Hooft; Rune R. Frants πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 654 KB

We have applied the denaturing gradient gel electrophoresis (DGGE) technique to detect sequence variations in exon 9 of the low density lipoprotein receptor (LDLR) gene in individuals with heterozygous familial hypercholesterolemia (FH). A fragment containing exon 9 and 25 base pairs (bp) of the int