Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients

Screening of 25 Italian patients with Ni

Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

✍ V. Ricci; M. Stroppiano; F. Corsolini; M. Di Rocco; G. Parenti; S. Regis; S. Gro 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 1 views

Niemann-Pick disease (NPD) results from the deficiency of lysosomal acid sphingomyelinase (SMPD1). To date, out of more than 70-disease associated alleles only a few of them have a significant frequency in various ethnic groups. In contrast, the remainder of the mutations are rare or private. In thi