An example of an autosomal recessive condition is cystic fibrosis. Cystic fibrosis close cystic fibrosisA disorder that mainly affects the lungs, pancreas, liver, and intestine. The main symptom ...

Sickle cell anaemia is a genetic blood disorder characterised by the production of an abnormal haemoglobin, known as ...

More information: V.K. Chundru et al. Federated analysis of the contribution of autosomal recessive coding variants to 29,745 ...

Sickle Cell disease is an autosomal recessive disorder that causes anemia, joint pain, a swollen spleen, and frequent, severe infections. It illustrates balanced polymorphism because carriers are ...

Their ancestors have a high incidence of the autosomal recessive disorder achromatopsia, or total colorblindness, and genetic analysis of the Pingelapese has revealed the mutation responsible.

Jaguar Health’s Napo Pharmaceuticals and Napo Therapeutics announced that the first patient has been dosed in the independent investigator-initiated POC trial of crofelemer, Jag ...

Background Sickle cell trait (SCT) is considered a benign heterozygous carrier state (both normal haemoglobin and abnormal HbS) compatible with elite level sport, whereas the autosomal recessive state ...