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Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export.
Stalke A, Pfister ED, Baumann U, Eilers M, Schäffer V, Illig T, Auber B, Schlegelberger B, Brackmann R, Prokisch H, Krooss S, Bohne J, Skawran B. Stalke A, et al. Among authors: pfister ed. Eur J Hum Genet. 2019 Jun;27(6):879-887. doi: 10.1038/s41431-019-0345-1. Epub 2019 Feb 5. Eur J Hum Genet. 2019. PMID: 30723317 Free PMC article.
Dubin-Johnson Syndrome as Differential Diagnosis for Neonatal Cholestasis.
Junge N, Goldschmidt I, Wiegandt J, Leiskau C, Mutschler F, Laue T, Ohlendorf J, Stalke A, Hartleben B, Stindt J, Keitel V, Baumann U, Pfister ED. Junge N, et al. Among authors: pfister ed. J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):e105-e111. doi: 10.1097/MPG.0000000000003061. J Pediatr Gastroenterol Nutr. 2021. PMID: 33534365
74 results