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Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
BACKGROUND: Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants. Genetic changes predicted to affect NIPBL gene splicing represent 15%...
Tallennettuna:
| Julkaisussa: | BMC Med Genet |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2019
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6318863/ https://ncbi.nlm.nih.gov/pubmed/30606125 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0738-y |
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