𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B

✍ Scribed by Irun, P; Mallén, M; Dominguez, C; Rodriguez-Sureda, V; Alvarez-Sala, LA; Arslan, N; Bermejo, N; Guerrero, C; Perez de Soto, I; Villalón, L; Giraldo, P; Pocovi, M

Book ID
126619726
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
534 KB
Volume
84
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification and characterization of S
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients
✍ Laura Rodríguez-Pascau; Laura Gort; Edward H. Schuchman; Lluïsa Vilageliu; Danie 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 195 KB

Niemann-Pick disease (NPD) types A/B are both caused by a deficiency of lysosomal acid sphingomyelinase and display autosomal recessive inheritance. These two types of the disease were described according to the presence (type A) or absence (type B) of neurological symptoms. We present a molecular a

Functional in vitro characterization of
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease
✍ Andrea Dardis; Stefania Zampieri; Mirella Filocamo; Alberto Burlina; Bruno Bembi 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 1 views

Niemann Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid sphingomyelinase due to mutations in the SMPD1 gene. We functionally characterized three novel SMPD1 mutations and 11 already reported in the Italian population. Mutant alleles we