Results overview: Found 1 records in 0.01 seconds.
Articles, 1 records found
Articles 1 records found  
1.
17 p, 2.5 MB A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations / Overeem, Arend W. (University Medical Center Groningen) ; Li, Qinghong (University Medical Center Groningen) ; Qiu, Yi-Ling (Children's Hospital of Fudan University, Shanghai) ; Cartón-Garcia, Fernando (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Leng, Changsen (University Medical Center Groningen) ; Klappe, Karin (University Medical Center Groningen) ; Dronkers, Just (University Medical Center Groningen) ; Hsiao, Nai-Hua (University Medical Center Groningen) ; Wang, Jian-She (Children's Hospital of Fudan University, Shanghai) ; Arango, Diego (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; van Ijzendoorn, Sven C. D. (University Medical Center Groningen) ; Universitat Autònoma de Barcelona
Progressive familial intrahepatic cholestasis (PFIC) 6 has been associated with missense but not biallelic nonsense or frameshift mutations in MYO5B, encoding the motor protein myosin Vb (myoVb). This genotype-phenotype correlation and the mechanism through which MYO5B mutations give rise to PFIC are not understood. [...]
2020 - 10.1002/hep.31002
Hepatology, Vol. 72 (april 2020) , p. 213-229  

Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.