SMC1A Expression and Mechanism of Pathogenicity in Probands with X-linked Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is a dominantly inherited heterogeneous genetic disorder with multi-system abnormalities. 60% of probands with CdLS have heterozygous mutations in the Nipped-B- like (NIPBL) gene, 5% have mutations in the SMC1A gene, and 1 proband was found to have a mutation in the...

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Autores principales: Liu, Jinglan, Feldman, Rachel, Zhang, Zhe, Deardorff, Matthew A., Haverfield, Eden V., Kaur, Maninder, Li, Jennifer R., Clark, Dinah, Kline, Antonie D., Waggoner, Darrel J., Das, Soma, Jackson, Laird G., Krantz, Ian D.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2783874/
https://ncbi.nlm.nih.gov/pubmed/19701948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21095
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