These rods cause a person's red blood cells to take on a deformed, sickle-like shape, thus giving the disease its name ... Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome ...

The severeity of the disease, the need of performing liver biopsies for diagnosis and the inability to establish prenatal diagnosis make the identification of the mutations clinically important.

GENOMIC analysis of 11,555 congenital heart disease (CHD) probands identified 60 dominant genes contributing to 10.1% of ...

Unlike common genetic variants that contribute small risks, rare mutations like those in ITSN1 can reveal critical disease ...