TY  - GEN
AU  - Dastsooz,Hassan
AU  - Dehghani,Seyed Mohsen
AU  - Imanieh,Mohammad Hadi
AU  - Haghighat,Mahmood
AU  - Moini,Maryam
AU  - Fardaei,Majid
TI  - A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease
SN  - 1879-0038
PY  - 2013///0220
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Cation Transport Proteins
KW  - Child, Preschool
KW  - Copper-Transporting ATPases
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Frameshift Mutation
KW  - Hepatolenticular Degeneration
KW  - enzymology
KW  - Humans
KW  - Iran
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutant Proteins
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Sequence Deletion
KW  - Sequence Homology, Amino Acid
KW  - Spiro Compounds
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.gene.2012.10.085
ER  -