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MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

The basic-helix–loop–helix-leucine zipper (bHLHZip) protein MITF (microphthalmia-associated transcription factor) is a master regulator of melanocyte development. Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndr...

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Détails bibliographiques
Auteurs principaux: Grill, Christine, Bergsteinsdóttir, Kristín, Ögmundsdóttir, Margrét H., Pogenberg, Vivian, Schepsky, Alexander, Wilmanns, Matthias, Pingault, Veronique, Steingrímsson, Eiríkur
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2013
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3888191/
https://ncbi.nlm.nih.gov/pubmed/23787126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt285
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