Tag: Mutations

Cardiology

Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.

Newsemia
Related Articles Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia. Atherosclerosis. 2019 Nov 29;292:143-151 Authors: Lamiquiz-Moneo I, Restrepo-Córdoba MA, Mateo-Gallego...
Latest News

Chemotherapy can cause drug-resistant mutations in pediatric ALL patients who relapse

Newsemia
Chemotherapy has helped make the most common childhood cancer one of the most curable, but researchers have evidence that the treatment may also prime some...
Latest News

 Vertex Announces Reimbursement of Cystic Fibrosis Medicines SYMDEKO® (tezacaftor/ivacaftor and ivacaftor) for Eligible Patients Ages 12 and Older, and ORKAMBI® (lumacaftor/ivacaftor) in Children Ages 2 to 5, With Certain CFTR Mutations in Australia

Newsemia
LONDON–(BUSINESS WIRE)–Vertex announced reimbursement of SYMDEKO for eligible patients ages 12 and older, and ORKAMBI for children ages 2 to 5 in Australia. Source link...
Pediatrics

Subtle Mitochondrial DNA Mutations Alter Expression of Nuclear Genes, with Profound Clinical Effects

Newsemia
Subtle changes in the DNA of mitochondria, the tiny power plants in cells, can have profound consequences for a patient’s health. Research on biological mechanisms...

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