Prospective Turkish Cohort Study to Investigate the Frequency of Niemann - Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member

ConclusionsThis is the largest screening study conducted to date in Turkey in the families of patients with NP-C with homozygous inheritance. We have reported heterozygote frequencies, identified a novel mutation, and detected new patients with NP-C. These findings will aid our understanding of NP-C and may lead to improved recognition and more timely diagnosis.
Source: Molecular Diagnosis and Therapy - Category: Molecular Biology Source Type: research