Corpus ID: 145092266

Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome

@inproceedings{Costa2012FurtherCT,
  title={Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome},
  author={E. Costa},
  year={2012}
}
  • E. Costa
  • Published 2012
  • Biology
    • Dissertacao de Mestrado em Biologia apresentada a Faculdade de Ciencias da Universidade do Porto, 2012 
    repositorio.insa.pt

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    On the Molecular Etiology of Cornelia de Lange Syndrome
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    Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease
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    Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome
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    Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
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