Iron builds up in the liver, pancreas and brain when the ceruloplasmin gene is mutated; low serum ceruloplasmin, high ferritin and MRI findings support the diagnosis.
Antiviral pressure, rapid replication and an error-prone polymerase let resistant HBV strains emerge; pol gene sequencing detects the mutations and the viral genotype.
Inflammation and LDL cholesterol are described as two separate causal pathways for atherosclerotic disease, and this locus is examined alongside them by QTL analysis.
Low 21-hydroxylase activity leaves cortisol short and androgens high, bringing hirsutism, acne and irregular periods. CYP21A2 analysis confirms it and finds carriers.
Genes as well as diet and exercise shape cholesterol levels; zebrafish ldlr work and cardiovascular linkage studies underpin risk assessment and cascade screening.
Nearly half of people with hypertension see blood pressure climb with salt. Salt-sensitive hypertension, its genetic markers and renal injury are covered.
Low sex hormones and delayed puberty occur here without loss of smell, which makes HH5 harder to spot. Hormone tests, imaging and gene findings are set out.
A severe combined immunodeficiency variant linked to NHEJ1 and RAG1 variants, where TRECs and KRECs measurement aids detection and stem cell transplantation is used.