A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. [electronic resource]
- Gene Feb 2013
- 48-53 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1879-0038
10.1016/j.gene.2012.10.085 doi
Adenosine Triphosphatases--genetics Adolescent Adult Amino Acid Sequence Amino Acid Substitution Cation Transport Proteins--genetics Child, Preschool Copper-Transporting ATPases DNA Mutational Analysis Exons Female Frameshift Mutation Hepatolenticular Degeneration--enzymology Humans Iran Male Middle Aged Molecular Sequence Data Mutant Proteins--genetics Mutation, Missense Pedigree Phenotype Sequence Deletion Sequence Homology, Amino Acid Spiro Compounds Young Adult