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First observation of a mutation (R192Q) in a weak KEL2 phenotype encoded by 575 G>A, ethnic origin: Austria.
A novel KEL*02.03 with c.1414-1G>T SNV found in the Polish family leading to Ko_null phenotype
Systemic scleroderma (SSc) is an autoimmune disease which results in fibrotic production in the lung. Resultant SSC-pulmonary fibrosis is the main cause of mortality among SSc patients. From high throughput RNAi screening, we uncovered the ubiquitin E3 ligase KLHL42 as a potential pro-fibrotic media...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-01-14 | MSV000084800 | MassIVE
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