𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

✍ Scribed by Ida V. D. Schwartz; Luciane C. Lima; Karen Tylee; Ruy P. Oliveira Sobrinho; Denise Y. J. Norato; Andréa R. Duarte; Guy Besley; Maira G. Burin; Ursula Matte; Roberto Giugliani; Sandra Leistner-Segal

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
71 KB
Volume
140A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of 9 novel IDS gene mutat
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients
✍ Stanislav L. Karsten; Elena Voskoboeva; Britt-Marie Carlberg; Wim J. Kleijer; T 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 104 KB 👁 2 views

Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat

Analysis of five mutations in 20 mucopol
Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation
✍ Laura Gort; Amparo Chabás; M. Josep Coll 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB

Mucopolysaccharidosis type I is a lysosomal storage disease due to a-L-Iduronidase deficiency. Three main phenotypes have been reported: Hurler (severe), Scheie (mild) and Hurler/Scheie (intermediate). High prevalence of mutations W402X and Q70X has been described. We studied these two mutations in