Zobrazeno 1 - 1
of 1
pro vyhledávání: '"ubr1 protein, human"'
Publikováno v:
Vojnosanitetski Pregled, Vol 80, Iss 10, Pp 885-889 (2023)
Introduction. Johanson-Blizzard syndrome (JBS) is a very rare genetic disorder caused by a mutation of the ubiquitin protein ligase E3 component N-recognin 1 (UBR1) gene. Clinical diagnosis is based on the pathognomonic combination of congenital exoc
Externí odkaz:
https://doaj.org/article/4d97886265944e0e9a6fd53b40915788
