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Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q

Jacobsen syndrome is a haploinsufficiency disorder caused, most frequently by terminal deletion of part of the long arm of chromosome 11, with breakpoints in 11q23.3–11q24.2. Inheritance of an expanded p(CCG)(n) trinucleotide repeat at the folate-sensitive fragile site FRA11B has been implicated in...

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Autori principali: Tunnacliffe, Alan, Jones, Christopher, Le Paslier, Denis, Todd, Roger, Cherif, Dora, Birdsall, Michelle, Devenish, Louise, Yousry, Cherine, Cotter, Finbarr E., James, Michael R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 1999
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC310705/
https://ncbi.nlm.nih.gov/pubmed/9927483
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