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Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Genomic single-copy DNA fragments were used to characterize an undetected chromosome translocation in an individual whose metaphase chromosome analysis revealed apparent monosomy 21. Eight RFLPs detected by six probes were used to identify homologous sequences from chromosome 21 in DNA digests from...

詳細記述

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書誌詳細
主要な著者: Phelan, M C, Morton, C C, Stevenson, R E, Tanzi, R E, Stewart, G D, Watkins, P C, Gusella, J F, Amos, J A
フォーマット: Artigo
言語:Inglês
出版事項: 1988
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715513/
https://ncbi.nlm.nih.gov/pubmed/2902789
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