Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.
We studied a homozygous deletion in the lipoprotein lipase gene at the molecular level. Comprising the end of intron 8, the whole of exon 9, and about two-thirds of intron 9, this 2.136-kb deletion caused complete lipoprotein lipase deficiency and severe hypertriglyceridemia (type I hyperlipoprotein...
Salvato in:
| Autori principali: | , , , , , , , , , |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
1995-02-01
|
| Serie: | Journal of Lipid Research |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S0022227520399132 |
| Tags: |
Nessun Tag, puoi essere il primo ad aggiungerne!!
|