“Acquired” hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene
Identifieur interne : 001F79 ( Main/Exploration ); précédent : 001F78; suivant : 001F80“Acquired” hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene
Auteurs : Giovanni Antonio Cocco [Italie] ; Georgios Loudianos [Italie] ; Giovanni Mario Pes [Italie] ; Francesco Tolu [Italie] ; Maria Barbara Lepori [Italie] ; Marianna Barrocu [Italie] ; Gian Pietro Sechi [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-08-15.
English descriptors
- KwdEn :
- Adenosine Triphosphatases (genetics), Adenosine Triphosphatases (physiology), Adult, Amino Acid Substitution, Basal Ganglia (pathology), Cation Transport Proteins (genetics), Cation Transport Proteins (physiology), Copper (metabolism), DNA Mutational Analysis, Exons (genetics), Genetic Predisposition to Disease, Hepatitis C, Chronic (complications), Hepatolenticular Degeneration (genetics), Hepatolenticular Degeneration (metabolism), Heterozygote, Humans, Hydrophobic and Hydrophilic Interactions, Liver Cirrhosis (complications), Male, Mutation, Missense, Penicillamine (adverse effects), Penicillamine (therapeutic use), Protein Structure, Secondary, Thrombocytopenia (chemically induced), Trihexyphenidyl (therapeutic use).
- MESH :
- chemical , adverse effects : Penicillamine.
- chemical , genetics : Adenosine Triphosphatases, Cation Transport Proteins.
- chemical , metabolism : Copper.
- chemical , physiology : Adenosine Triphosphatases, Cation Transport Proteins.
- chemically induced : Thrombocytopenia.
- complications : Hepatitis C, Chronic, Liver Cirrhosis.
- genetics : Exons, Hepatolenticular Degeneration.
- metabolism : Hepatolenticular Degeneration.
- pathology : Basal Ganglia.
- chemical , therapeutic use : Penicillamine, Trihexyphenidyl.
- Adult, Amino Acid Substitution, DNA Mutational Analysis, Genetic Predisposition to Disease, Heterozygote, Humans, Hydrophobic and Hydrophilic Interactions, Male, Mutation, Missense, Protein Structure, Secondary.
Url:
DOI: 10.1002/mds.22659
Affiliations:
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Le document en format XML
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Lepori</name></author><author><name sortKey="Barrocu, Marianna" sort="Barrocu, Marianna" uniqKey="Barrocu M" first="Marianna" last="Barrocu">Marianna Barrocu</name></author><author><name sortKey="Sechi, Gian Pietro" sort="Sechi, Gian Pietro" uniqKey="Sechi G" first="Gian Pietro" last="Sechi">Gian Pietro Sechi</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:8EFDA3F022AE29851C4E6121E9AF45B8F76941C1</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22659</idno><idno type="url">https://api.istex.fr/document/8EFDA3F022AE29851C4E6121E9AF45B8F76941C1/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002833</idno><idno type="wicri:Area/Istex/Curation">002833</idno><idno type="wicri:Area/Istex/Checkpoint">000B81</idno><idno type="wicri:doubleKey">0885-3185:2009:Cocco G:acquired:hepatocerebral:degeneration</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:19514071</idno><idno 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last="Tolu">Francesco Tolu</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Internal Medicine, University of Sassari, Sassari</wicri:regionArea><wicri:noRegion>Sassari</wicri:noRegion></affiliation></author><author><name sortKey="Lepori, Maria Barbara" sort="Lepori, Maria Barbara" uniqKey="Lepori M" first="Maria Barbara" last="Lepori">Maria Barbara Lepori</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>USC, Department of Biomedical Sciences and Biotechnologies, Cagliari</wicri:regionArea><wicri:noRegion>Cagliari</wicri:noRegion></affiliation></author><author><name sortKey="Barrocu, Marianna" sort="Barrocu, Marianna" uniqKey="Barrocu M" first="Marianna" last="Barrocu">Marianna Barrocu</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, University of Sassari, Sassari, 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