Articles with "summary mutations" as a keyword



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Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCIā€related genes from the United Arab Emirates

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Published in 2017 at "International Journal of Dermatology"

DOI: 10.1111/ijd.13568

Abstract: Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variably, with certain genes/mutations being… read more here.

Keywords: congenital ichthyoses; congenital; recessive congenital; mutations underlying ... See more keywords