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pro vyhledávání: '"Kokkonen, H. (Hannaleena)"'
Autor:
Kokkonen, H. (Hannaleena)
The Prader-Willi (PWS) and Angelman (AS) syndromes are clinically distinct developmental disorders which are caused by genetic defects in the imprinted domain at chromosome 15q11-q13, resulting in the loss of paternal (PWS) or maternal (AS) gene func
Externí odkaz:
http://urn.fi/urn:isbn:9514270274
Autor:
Knuutinen, O. (Oula), Pyle, A. (Angela), Suo-Palosaari, M. (Maria), Duff, J. (Jennifer), Froukh, T. (Tawfiq), Lehesjoki, A.-E. (Anna-Elina), Kangas, S. M. (Salla M.), Cassidy, J. (James), Maraqa, L. (Latifa), Keski-Filppula, R. (Riikka), Kokkonen, H. (Hannaleena), Uusimaa, J. (Johanna), Horvath, R. (Rita), Vieira, P. (Päivi)
TATA‐box binding protein associated factor, RNA polymerase I subunit C (TAF1C) is a component of selectivity factor 1 belonging to RNA polymerase I (Pol I) transcription machinery. We report two unrelated patients with homozygous TAF1C missense var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::d71692b078680a71266f46df217f16c3
http://urn.fi/urn:nbn:fi-fe202102013390
http://urn.fi/urn:nbn:fi-fe202102013390