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
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population
β Scribed by R Cagliani; F Fortunato; R Giorda; C Rodolico; M.C Bonaglia; M Sironi; M.G D'Angelo; A Prelle; F Locatelli; A Toscano; N Bresolin; G.P Comi
- Book ID
- 117669787
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 231 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0960-8966
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A new simple, non-invasive method using ornithine transcarbamylase (OTC) mRNA isolated from peripheral blood (PBL) or lymphoblastoid cell lines has been performed. This approach based on reverse transcription and nested PCR to obtain a double strand PBL OTC cDNA allowed the identification of genetic
Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the third enzyme in the heme biosynthetic pathway. So far, more than 160 different mutations responsible for AIP have been identified in this gene.