Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
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DOI: 10.1515/jpem-2021-0336
Abstract: Abstract Objectives Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism. It is mainly caused by a deficiency in phenylalanine hydroxylase (PAH) and frequently diagnosed with Sanger sequencing. To some extent, allelic dropout… read more here.
Keywords: dropout; diagnosis; pah affecting; dropout pah ... See more keywords