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Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR

Although trisomy of chromosome 21 is the most prevalent human genetic disorder, data from partial 21 aneuploidies are very scanty. Eight different partial aneuploidies for chromosome 21( )were characterised by fluorescence quantitative PCR. Allelic dosage analysis was performed for each patient usin...

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Autori principali: Valero, R., Marfany, G., Gil-Benso, R., Ibanez, M. d., Lopez-Pajares, I., Prieto, F., Rul.lan, G., Sarret, E., Gonzalez-Duarte, R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 1999
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734419/
https://ncbi.nlm.nih.gov/pubmed/10507727
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