Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

The phenotypic heterogeneity of Lamin A/C (LMNA) variants renders it difficult to classify them. As a consequence, many LMNA variants are classified as variant of unknown significance (VUS). A number of studies reported different types of visible nuclear abnormalities in LMNA-variant carriers, such...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: van Tienen, Florence H. J., Lindsey, Patrick J., Kamps, Miriam A. F., Krapels, Ingrid P., Ramaekers, Frans C. S., Brunner, Han G., van den Wijngaard, Arthur, Broers, Jos L. V.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460565/
https://ncbi.nlm.nih.gov/pubmed/30420677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0294-0
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