Investigation of modifier genes within copy number variations in Rett syndrome

MECP2 mutations are responsible for two different phenotypes in females, classical Rett syndrome and the milder Zappella variant (Z-RTT). We investigated whether Copy Number Variants (CNVs) may modulate the phenotype by comparison of array-CGH data from two discordant pairs of sisters and four addit...

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Hlavní autoři: Artuso, Rosangela, Papa, Filomena Tiziana, Grillo, Elisa, Mucciolo, Mafalda, Yasui, Dag H., Dunaway, Keith W., Disciglio, Vittoria, Mencarelli, Maria Antonietta, Pollazzon, Marzia, Zappella, Michele, Hayek, Giuseppe, Mari, Francesca, Renieri, Alessandra, LaSalle, Janine M., Ariani, Francesca
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3145144/
https://ncbi.nlm.nih.gov/pubmed/21593744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2011.50
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