Molecular analysis of eight severe FV‐deficient patients in Pakistan: A large series of homozygous for frameshift mutations.

The article presents a study which reported eight unrelated patients from Pakistan suffering from congenital factor V (FV) deficiency. Topics discussed include the severity of bleeding symptoms of the patients, the lack of correlation found between the clinical expression of the disease and genetic defects, and implication of the paradox between the expected pathogenicity of frameshift mutations and the relatively mild clinical phenotype of the patients.