- Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
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Jang MA, Lee CW, Kim JK, Ki CS
- KMID: 2363269
- Ann Lab Med.
- 2015 Nov;35(6):639-642.
- doi: 10.3343/alm.2015.35.6.639
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family... -
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- Real-Time PCR analysis of af4 and dek genes expression in acute promyelocytic leukemiat (15;17)patients
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Savli H, Sirma S, Nagy B, Aktan M, Dincol G, Salcioglu , Sarper N, Ozbek U
- KMID: 1097111
- Exp Mol Med.
- 2004 Jun;36(3):279-282.
Among several newly identified oncogenes, dek and af4 are attractive targets for researchers interested with leukemia. In this study quantitative Real-Time RT-PCR technique was used to define alterations in expression... -
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