ASSESSMENT OF THE QUALITY OF GROUNDWATER IN THE KAZYGURT REGION FOR USE IN THE AGRICULTURAL SECTOR


Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

Johanson-Blizzard syndrome (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, facial dysmorphism with the characteristic nasal wing hypoplasia, multiple malformations, and frequent mental retardation.Our previous work has shown that JBS is caused by mutations in human UBR1, which encode

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