Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

Autor: Erzurumluoglu, A. Mesut, Rodriguez, Santiago, Guthrie, Philip A I, Day, Ian N M, Gaunt, Tom R

Publikováno v: Erzurumluoglu, A M, Rodriguez, S, Guthrie, P A I, Day, I N M & Gaunt, T R 2015, ' Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC ', PLoS ONE, vol. 10, no. 3, e0121351 . https://doi.org/10.1371/journal.pone.0121351

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2642::ed196547ac03d75bc9717f8be0f91186
https://research-information.bris.ac.uk/ws/files/79349549/journal.pone.0121351.PDF

Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia

Autor: Alsaadi, Muslim M., Erzurumluoglu, A. Mesut, Rodriguez, Santiago, Guthrie, Philip A I, Gaunt, Tom R., Omar, Hager Z., Mubarak, Mohammad, Alharbi, Khalid K., Al-Rikabi, Ammar C., Day, Ian N M

Publikováno v: Alsaadi, M M, Erzurumluoglu, A M, Rodriguez, S, Guthrie, P A I, Gaunt, T R, Omar, H Z, Mubarak, M, Alharbi, K K, Al-Rikabi, A C & Day, I N M 2014, ' Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia ', Human Mutation, vol. 35, no. 12, pp. 1446-1448 . https://doi.org/10.1002/humu.22698

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder characterized by impaired ciliary function that leads to subsequent clinical phenotypes such as chronic sinopulmonary disease. PCD is also a genetically heterogeneous disorder with m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2642::10474ecdf0cb63429ad44e52c028df77
https://research-information.bris.ac.uk/ws/files/85938912/Alsaadi_et_al_2014_Human_Mutation.pdf

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.