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Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14

Uniparental disomy (UPD) for chromosome 14 is associated with well-recognized phenotypes, depending on the parent of origin. Studies in mouse models and human patients have implicated the involvement of the distal region of the long arm of chromosome 14 in the distinctive phenotypes. This involvemen...

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Bibliografische gegevens
Hoofdauteurs: Irving, Melita D., Buiting, Karin, Kanber, Deniz, Donaghue, Celia, Schulz, Reiner, Offiah, Amaka, Mohammed, Shehla N., Oakey, Rebecca J.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2010
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3819653/
https://ncbi.nlm.nih.gov/pubmed/20602488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33449
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