𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8

✍ Scribed by Wayne A. Mitchell; Ruth B. Wheeler; Julie D. Sharp; S. Louise Bate; R. Mark Gardiner; U. Susanna Ranta; Liina Lonka; Ruth E. Williams; Anna-Elina Lehesjoki; Sara E. Mole


Book ID
114464897
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
887 KB
Volume
5
Category
Article
ISSN
1090-3798

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutations in MFSD8/CLN7 are a frequent c
✍ Chiara Aiello; Alessandra Terracciano; Alessandro Simonati; Giancarlo Discepoli; πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 911 KB

The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to examine the relative frequency of variants