Sentence examples for mutations causing severe from inspiring English sources

This work identifies SCN8A as the fifth sodium-channel gene to be mutated in epilepsy and demonstrates the value of WGS for the identification of pathogenic mutations causing severe, sporadic neurological disorders.

This region is intensively studied for mutations causing severe developmental/genetic disorders.

Cx mutations are now widely accepted as one of the most common human mutations causing severe sensorineural deafness.

We provide a novel molecular explanation for a child with two opposing mutations causing severe FGD.

The influenza virus (IV) is known to be a resistant virus with frequent mutations, causing severe respiratory diseases in the upper respiratory system.

The patients have collagen mutations causing severe and moderate non-lethal OI, corresponding more to non-lethal Aga2 mice (Aga2 mild).

Several genes in which rare mutations cause severe monogenic or syndromic forms of obesity have been described, and these have furthered our knowledge of the molecular pathways involved in food intake regulation and the control of body weight [ 10].

Maguire J, McKibbin M, Khan K, Kohl S, Ali M, McKeefry D. CNGB3 mutations cause severe rod dysfunction.

Nonsense mutations cause a complete absence of pain, whereas activating mutations cause severe episodic pain in paroxysmal extreme pain disorder and primary erythermalgia.

SERPINH1 mutations cause severe recessive OI.

All mutations cause severe HB forms characterized by factor IX (FIX) levels in plasma below 1%.