Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

Ilja Boor, P K

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. [electronic resource] - Human mutation Jun 2006 - 505-12 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20332 doi


Base Sequence
Brain Diseases--diagnosis
Brain Neoplasms--diagnosis
Central Nervous System Cysts--diagnosis
DNA Mutational Analysis
Founder Effect
Genetic Linkage
Head--abnormalities
Hereditary Central Nervous System Demyelinating Diseases--diagnosis
Humans
Membrane Proteins--chemistry
Molecular Sequence Data
Mutation
Polymorphism, Genetic
RNA Splice Sites
Sequence Analysis, Protein
Telencephalon--abnormalities