Zobrazeno 1 - 2
of 2
pro vyhledávání: '"M. C. J. Jongmans"'
Autor:
R. Koster, R. D. Brandão, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, K. B. M. Claes, A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V. van der Schoot, C. T. R. M. Stumpel, M. P. G. Broen, L. Spruijt, M. C. J. Jongmans, S. A. J. Lesnik Oberstein, A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk, K. W. J. Derks, H. G. Brunner, A. van den Wijngaard, M. van Geel, M. J. Blok
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing
Externí odkaz:
https://doaj.org/article/982c0d93ba4e444ea8df66af21437691
Autor:
N J H, van Os, N, Roeleveld, C M R, Weemaes, M C J, Jongmans, G O, Janssens, A M R, Taylor, N, Hoogerbrugge, M A A P, Willemsen
Publikováno v:
Clinical genetics. 90(2)
Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. Logically, blood relatives may also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::83eb2c4c231735b4711bcda5bcb055b6
https://pubmed.ncbi.nlm.nih.gov/26662178
https://pubmed.ncbi.nlm.nih.gov/26662178