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HAF016). A specific band was detected for CHD7 at approximately 350 kDa (as indicated). This experiment was conducted under reducing conditions and using Immunoblot Buffer Group 8." class="big_lightbox" target="_blank">
NL010) and counterstained with DAPI (blue, lower panel). Specific staining was localized to nuclei. View our protocol for Fluorescent ICC Staining of Cells on Coverslips." class="big_lightbox" target="_blank">
Human CHD7 is a chromodomain helicase DNA-binding protein and mutations in the CHD7 gene are a major cause of CHARGE syndrome. CHARGE syndrome is a well characterized multiple-malformation syndrome with distinctive diagnostic critera. Anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation.