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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A

Document Type

Article

Author

Almaas, R.; Melheim, M.; Harrison, S.P.; Hermansen, J.U.; Andersen, S.S.; Sullivan, G.J.; Atneosen-Åsegg, M.; Reims, H.M.; Stray-Pedersen, A.; Ytre-Arne, M.E.; Strand, J.; Sorte, H.S.; Eiklid, K.L.; Cízková, D.; Mokrý, J.; Bezrouk, A.

Source

In: Journal of Hepatology. (Journal of Hepatology, October 2023, 79(4):945-954)

Subject

Language

English

ISSN

16000641
01688278

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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