Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

BACKGROUND: A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed exonic enhancers or “eExons”. METHODS: We scree...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Orphanet J Rare Dis
Main Authors: Tayebi, Naeimeh, Jamsheer, Aleksander, Flöttmann, Ricarda, Sowinska-Seidler, Anna, Doelken, Sandra C, Oehl-Jaschkowitz, Barbara, Hülsemann, Wiebke, Habenicht, Rolf, Klopocki, Eva, Mundlos, Stefan, Spielmann, Malte
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2014
נושאים:
Research
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4237947/
https://ncbi.nlm.nih.gov/pubmed/25231166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0108-6
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