Sentence examples for mutations caused severe from inspiring English sources

All of the reported mutations caused severe deficiency of PNPO activity resulting in neonatal epileptic encephalopathy.

Although all exons were constitutive, C-terminal mutations caused severe myopathy whereas N-terminal mutations demonstrated mild phenotypes.

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.

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.

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

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

SERPINH1 mutations cause severe recessive OI.

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

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