Dastsooz, Hassan

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