SOD1 gene
The SOD1 gene, also known as superoxide dismutase 1, is a genetic molecule that plays a crucial role in protecting cells from…
GP6 gene
The GP6 gene is responsible for encoding the glycoprotein VI (GPVI) receptor on platelets. Mutations in this gene can cause GPVI deficiency,…
KCNQ1 gene
The KCNQ1 gene, also known as the potassium voltage-gated channel subfamily Q member 1, plays a crucial role in the cardiovascular system.…
ZFP57 gene
The ZFP57 gene, also known as zinc finger protein 57, is a gene that plays a crucial role in genomic imprinting. Imprinting…
Nitrites in Urine
Nitrites are one of the key indicators used in urinary tests to determine the presence of a urinary tract infection (UTI). Nitrites…
Sputum Culture
Sputum culture is a diagnostic test that is commonly used to identify bacterial infections in the lungs. It is especially useful in…
Lymphedema-distichiasis syndrome
Lymphedema-distichiasis syndrome is a rare genetic condition associated with the abnormal development of the lymphatic system and the presence of extra eyelashes.…
Complement factor I deficiency
Complement factor I deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the genes…
CHARGE syndrome
CHARGE syndrome is a rare genetic condition that affects multiple areas of the body. The name “CHARGE” is an acronym for some…