NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

Since spontaneous remission of focal segmental glomerulosclerosis is rare (7,12-14) and an improved prognosis is associated with the remission of nephrotic syndrome, it is in the

The most common mitochondrial muta- tion associated with deafness is the A1555G substitution in the 12S rRNA gene, which has been detected in patients of different ethnic

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.. High prevalence of the H1069Q mutation in East german patients with Wilson

for Supporting Alzheimer’s Disease patients’ rate of cover - age in the year 2008, an increase was noted in the national average of cholinesterase inhibitors distributed

The following variables were included in the study: sex, age at diagnosis, age at onset of the symptoms, time from symptoms to diagnosis, the Montreal classification, nausea,

The main primary glomerulopathies found in surveys carried out around the world are: focal segmental glomerulosclerosis (FSGS), IgA (IgAN) nephropathy, minimal change disease

Mutations that reflect defects in the Klotho gene expression may be implicated in the onset of osteonecrosis, pri- apism, and leg ulcers in patients with sickle cell disease, as

Interestingly, telomere length is a regulator of disease severity in patients harboring muta- tions in telomere biology genes, with more severe mutations causing more severe