A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. [electronic resource]
Producer: 20130220Description: 48-53 p. digitalISSN:- 1879-0038
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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