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Analysis of genomic instability using multiple assays in a patient with Rothmund–Thomson syndrome

We report on a patient with Rothmund–Thomson syndrome (RTS) whose cytogenetic evaluation showed a normal karyotype with no evidence of trisomy mosaicism or chromosomal rearrangements. Cultured lymphocytes from the patient, her mother, and a control exposed to mitomycin C and diepoxybutane did not sh...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Grant, SG, Wenger, SL, Latimer, JJ, Thull, D, Burke, LW
Formato: Artigo
Idioma:Inglês
Publicado em: 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4712958/
https://ncbi.nlm.nih.gov/pubmed/11076043
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