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Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions
Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of ∼1.5 Mb from 17q11.2 covering ⩾11 genes in 5%–20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used...
Tallennettuna:
| Päätekijät: | , , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
The American Society of Human Genetics
2001
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1235482/ https://ncbi.nlm.nih.gov/pubmed/11468690 |
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