๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

โœ Scribed by Latifa Chkioua; Souhir Khedhiri; Asma Kassab; Amina Bibi; Salima Ferchichi; Roseline Froissart; Christine Vianey-Saban; Sandrine Laradi; Abdelhedi Miled

Book ID
115022918
Publisher
BioMed Central
Year
2011
Tongue
English
Weight
517 KB
Volume
6
Category
Article
ISSN
1746-1596

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Molecular analysis of 30 mucopolysacchar
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations
โœ N. Venturi; A. Rovelli; R. Parini; F. Menni; F. Brambillasca; F. Bertagnolio; G. ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 176 KB ๐Ÿ‘ 1 views

Mucopolysaccharidosis type I (MPS-I orMPS1) is an autosomal recessive condition characterized by a broad range of clinical symptoms. Molecular diagnosis of MPS-I is important for analyzing genotype-phenotype correlation and for selecting patients for innovative therapies. In this study we analyzed 3