ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria.
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DOI: 10.1182/bloodadvances.2021005484
Abstract: The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among first-degree relatives of a… read more here.
Keywords: phenotype; represented patients; overly represented; abcb6 polymorphisms ... See more keywords