✦ LIBER ✦

Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

✍ Scribed by Lee-Chen, Guey Jen (author);Wang, Tso Ren (author)

Book ID: 124074095
Publisher: BMJ Publishing Group
Year: 1997
Tongue: English
Weight: 552 KB
Volume: 34
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmg.34.11.939

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mucopolysaccharidosis type I: identifica

Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

✍ Lee-Chen, Guey Jen (author);Wang, Tso Ren (author) 📂 Article 📅 1997 🏛 BMJ Publishing Group 🌐 English ⚖ 552 KB

Mucopolysaccharidosis type I: Identifica

Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

✍ Atsushi Yamagishi; Shunji Tomatsu; Seiji Fukuda; Atsushi Uchiyama; Nobuyuki Shim 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 582 KB

## Sly a-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MI'S-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Previous studies in Caucasian populations showed that ( 1) homozygosity or compou

Identification of a Novel VEGFR-3 Missen

Identification of a Novel VEGFR-3 Missense Mutation in a Chinese Family with Hereditary Lymphedema Type I

✍ Zhengya Yu; Jingjing Wang; Shuling Peng; Bing Dong; Yang Li 📂 Article 📅 2007 🏛 Elsevier 🌐 Chinese ⚖ 711 KB

Identification and characterisation of a

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

✍ Clare E. Beesley; Daniela Concolino; Mirella Filocamo; Bryan G. Winchester; Piet 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 386 KB