| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8314162 | Clinica Chimica Acta | 2012 | 6 Pages |
Abstract
⺠Identification of two large deletions in the LDLR gene by MLPA. ⺠Characterization of their exact extent and breakpoint sequences. ⺠The first one is a deletion of 12,684 bp linking intron 1 to intron 5. ⺠The second deletion spans 2364 bp from intron 4 to 6. ⺠Intrachromatid non-allelic homologous recombination (NAHR) between Alu elements is involved in rearrangements.
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Authors
Awatef Jelassi, Afef Slimani, Jean Pierre Rabès, Imen Jguirim, Marianne Abifadel, Catherine Boileau, Mohamed Najah, Samir M'rabet, Jawher Mzid, Mohamed Naceur Slimane, Mathilde Varret,