Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

de Bie, P

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. [electronic resource] - Journal of medical genetics Nov 2007 - 673-88 p. digital

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

1468-6244

10.1136/jmg.2007.052746 doi


Adenosine Triphosphatases--chemistry
Adenosine Triphosphate--metabolism
Animals
Cation Transport Proteins--chemistry
Copper--metabolism
Copper-Transporting ATPases
Disease Models, Animal
Female
Genotype
Hepatolenticular Degeneration--genetics
Humans
Male
Menkes Kinky Hair Syndrome--genetics
Mice
Mice, Mutant Strains
Mutation, Missense
Phenotype
Protein Interaction Mapping
Protein Structure, Tertiary
Rats
Rats, Inbred LEC
Structure-Activity Relationship
Zebrafish