𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Focal cortical dysplasia: A genotype–phenotype analysis of polymorphisms and mutations in the TSC genes

✍ Scribed by Christoph Gumbinger; Constantin B. Rohsbach; Andreas Schulze-Bonhage; Rudolf Korinthenberg; Josef Zentner; Monika Häffner; Susanne Fauser


Book ID
109111131
Publisher
Wiley (Blackwell Publishing)
Year
2009
Tongue
English
Weight
637 KB
Volume
50
Category
Article
ISSN
0013-9580

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Identification of 12 novel mutations and
✍ Laura Gort; M. Josep Coll; Amparo Chabás 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB 👁 2 views

Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unr