A misplaced lncRNA causes brachydactyly in humans

Translocations are chromosomal rearrangements that are frequently associated with a variety of disease states and developmental disorders. We identified 2 families with brachydactyly type E (BDE) resulting from different translocations affecting chromosome 12p. Both translocations caused downregulat...

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Autori principali: Maass, Philipp G., Rump, Andreas, Schulz, Herbert, Stricker, Sigmar, Schulze, Lisanne, Platzer, Konrad, Aydin, Atakan, Tinschert, Sigrid, Goldring, Mary B., Luft, Friedrich C., Bähring, Sylvia
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2012
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3485082/
https://ncbi.nlm.nih.gov/pubmed/23093776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI65508
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