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Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV

BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by heterozygous point mutations or genomic deletions involving FOXF1 or its 60-kb tissue-specific enhancer region mapping 270 kb upstream of FOXF1 and involving...

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Publicat a:Clin Epigenetics
Autors principals: Szafranski, Przemyslaw, Herrera, Carmen, Proe, Lori A., Coffman, Brittany, Kearney, Debra L., Popek, Edwina, Stankiewicz, Paweł
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5093964/
https://ncbi.nlm.nih.gov/pubmed/27822317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-016-0278-2
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