Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

FBXL3 (F-Box and Leucine Rich Repeat Protein 3) encodes a protein that contains an F-box and several tandem leucine-rich repeats (LRR) domains. FBXL3 is part of the SCF (Skp1-Cullin-F box protein) ubiquitin ligase complex that binds and leads to phosphorylation-dependent degradation of the central c...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Ansar, Muhammad, Paracha, Sohail Aziz, Serretti, Alessandro, Sarwar, Muhammad T, Khan, Jamshed, Ranza, Emmanuelle, Falconnet, Emilie, Iwaszkiewicz, Justyna, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Santoni, Federico A, Zoete, Vincent, Megarbane, Andre, Ahmed, Jawad, Colombo, Roberto, Makrythanasis, Periklis, Antonarakis, Stylianos E
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2019
Aiheet:
General Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6400105/
https://ncbi.nlm.nih.gov/pubmed/30481285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy406
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia