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Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
Witt H, Beer S, Rosendahl J, Chen JM, Chandak GR, Masamune A, Bence M, Szmola R, Oracz G, Macek M Jr, Bhatia E, Steigenberger S, Lasher D, Bühler F, Delaporte C, Tebbing J, Ludwig M, Pilsak C, Saum K, Bugert P, Masson E, Paliwal S, Bhaskar S, Sobczynska-Tomaszewska A, Bak D, Balascak I, Choudhuri G, Nageshwar Reddy D, Rao GV, Thomas V, Kume K, Nakano E, Kakuta Y, Shimosegawa T, Durko L, Szabó A, Schnúr A, Hegyi P, Rakonczay Z Jr, Pfützer R, Schneider A, Groneberg DA, Braun M, Schmidt H, Witt U, Friess H, Algül H, Landt O, Schuelke M, Krüger R, Wiedenmann B, Schmidt F, Zimmer KP, Kovacs P, Stumvoll M, Blüher M, Müller T, Janecke A, Teich N, Grützmann R, Schulz HU, Mössner J, Keim V, Löhr M, Férec C, Sahin-Tóth M. Witt H, et al. Nat Genet. 2013 Oct;45(10):1216-20. doi: 10.1038/ng.2730. Epub 2013 Aug 18. Nat Genet. 2013. PMID: 23955596 Free PMC article.
[Hereditary aspects of pancreatitis].
Bak D, Sobczyńska-Tomaszewska A, Bal J. Bak D, et al. Med Wieku Rozwoj. 2003 Jan-Mar;7(1):57-66. Med Wieku Rozwoj. 2003. PMID: 13130170 Review. Polish.
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.
Jezela-Stanek A, Suchoń L, Sobczyńska-Tomaszewska A, Czerska K, Kuśmierska K, Taybert J, Ołtarzewski M, Sykut-Cegielska J. Jezela-Stanek A, et al. Among authors: sobczynska tomaszewska a. Genes (Basel). 2022 Apr 29;13(5):802. doi: 10.3390/genes13050802. Genes (Basel). 2022. PMID: 35627187 Free PMC article.
39 results