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One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes

2015; Oxford University Press; Volume: 41; Issue: 2 Linguagem: Inglês

10.1111/ced.12710

1365-2230

Adrienn Sulák, László Tóth, Klaudia Farkas, Kornélia Tripolszki, Beáta Fábos, Lajos Kemény, Péter Vályi, Katalin Nagy, Nikoletta Nagy, Márta Széll,

RNA modifications and cancer

Journal Article One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes Get access A. Sulák, A. Sulák Department of Medical Genetics University of Szeged Szeged Hungary Correspondence: Adrienn Sulák, Department of Medical Genetics, University of Szeged, 4 Somogyi Béla utca, H‐6720 Szeged, Hungary E‐mail: sulak.adrienn@gmail.com Search for other works by this author on: Oxford Academic Google Scholar L. Tóth, L. Tóth Department of Medical Genetics University of Szeged Szeged Hungary Search for other works by this author on: Oxford Academic Google Scholar K. Farkas, K. Farkas MTA SZTE Dermatological Research Group University of Szeged Szeged Hungary Search for other works by this author on: Oxford Academic Google Scholar K. Tripolszki, K. Tripolszki Department of Medical Genetics University of Szeged Szeged Hungary Search for other works by this author on: Oxford Academic Google Scholar B. Fábos, B. Fábos Mór Kaposi Teaching Hospital Kaposvár Hungary Search for other works by this author on: Oxford Academic Google Scholar L. Kemény, L. Kemény MTA SZTE Dermatological Research Group University of Szeged Szeged HungaryDepartment of Dermatology and Allergology University of Szeged Szeged Hungary Search for other works by this author on: Oxford Academic Google Scholar P. Vályi, P. Vályi Department of Parodontology Faculty of Dentistry University of Szeged Szeged Hungary Search for other works by this author on: Oxford Academic Google Scholar K. Nagy, K. Nagy Department of Parodontology Faculty of Dentistry University of Szeged Szeged Hungary Search for other works by this author on: Oxford Academic Google Scholar N. Nagy, N. Nagy Department of Medical Genetics University of Szeged Szeged HungaryMTA SZTE Dermatological Research Group University of Szeged Szeged HungaryDepartment of Dermatology and Allergology University of Szeged Szeged Hungary Search for other works by this author on: Oxford Academic Google Scholar M. Széll M. Széll Department of Medical Genetics University of Szeged Szeged HungaryMTA SZTE Dermatological Research Group University of Szeged Szeged Hungary Search for other works by this author on: Oxford Academic Google Scholar Clinical and Experimental Dermatology, Volume 41, Issue 2, 1 March 2016, Pages 190–195, https://doi.org/10.1111/ced.12710 Published: 01 March 2016