Πλοήγηση ανά Θέμα "nonsense mediated mRNA decay"
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Netherton Syndrome: A Genotype-Phenotype Review
(2017)Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor ...