TY  - GEN
AU  - Tuschl,Karin
AU  - Clayton,Peter T
AU  - Gospe,Sidney M
AU  - Gulab,Shamshad
AU  - Ibrahim,Shahnaz
AU  - Singhi,Pratibha
AU  - Aulakh,Roosy
AU  - Ribeiro,Reinaldo T
AU  - Barsottini,Orlando G
AU  - Zaki,Maha S
AU  - Del Rosario,Maria Luz
AU  - Dyack,Sarah
AU  - Price,Victoria
AU  - Rideout,Andrea
AU  - Gordon,Kevin
AU  - Wevers,Ron A
AU  - Chong,W K Kling
AU  - Mills,Philippa B
TI  - Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man
SN  - 1537-6605
PY  - 2012///0713
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Sequence
KW  - Brain
KW  - metabolism
KW  - Cation Transport Proteins
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Mapping
KW  - methods
KW  - Codon, Nonsense
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Liver
KW  - Male
KW  - Manganese
KW  - Manganese Poisoning
KW  - Metabolic Diseases
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Saccharomyces cerevisiae
KW  - Sequence Alignment
KW  - Sequence Analysis, DNA
KW  - Young Adult
KW  - Zinc Transporter 8
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2012.01.018
ER  -