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Chromosomal Instability Syndrome of Total Premature Chromatid Separation with Mosaic Variegated Aneuploidy Is Defective in Mitotic-Spindle Checkpoint

Skin fibroblast cells from two unrelated male infants with a chromosome-instability disorder were analyzed for their response to colcemid-induced mitotic-spindle checkpoint. The infants both had severe growth and developmental retardation, microcephaly, and Dandy-Walker anomaly; developed Wilms tumo...

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Detalhes bibliográficos
Main Authors: Matsuura, Shinya, Ito, Emi, Tauchi, Hiroshi, Komatsu, Kenshi, Ikeuchi, Tatsuro, Kajii, Tadashi
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287192/
https://ncbi.nlm.nih.gov/pubmed/10877982
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