Mutations responsible for inherited disease may act by disrupting normal transcriptional splicing.

Cystic fibrosis is the most common life-threatening inherited disease in Ireland.

Cystic fibrosis is Ireland's most common life-threatening genetically inherited disease.

So Tessie Wartliz was suffering from an inherited disease commonly called "Greed."

Fanconi anemia (FA) is a recessive inherited disease characterized by defective DNA repair.

Main outcome measures: Rare inherited disease-related genetic mutations.

Zolgensma appears astonishingly effective against a rare, inherited disease, sufferers of which rarely live beyond four.

Translocations and gross deletions are responsible for a significant proportion of both cancer and inherited disease.

Studying an inherited disease in sheep has provided valuable insight into a similar inherited disease in humans.

There may have been a mutation or an inherited disease that has deformed or warped their minds.

Introduction: Computational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming.

Some were scrofulous and misshapen, or suffered from various loathsome forms of inherited disease; most were ill nourished.

Hereditary hemochromatosis is an HLA-linked inherited disease characterised by inappropriately high absorption of iron by the gastrointestinal mucosa.

Ocular albinism is an X-linked inherited disease and distinguished from oculocutaneous albinism by less hair and skin involvement.

Marriage between members of any extended family group increases the risk that subsequent children will have an inherited disease.

If left untreated, the inherited disease can cause brain damage, leading to seizures, mental disorders and other neurological complications.