Wilson's Disease-Genetic Puzzles with Diagnostic Implications.

ATP7B Wilson’s disease copper diagnostics epigenetics genetics genotype phenotype

Journal

Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402

Informations de publication

Date de publication:
29 Mar 2023
Historique:
received: 15 02 2023
revised: 12 03 2023
accepted: 18 03 2023
medline: 14 4 2023
entrez: 13 4 2023
pubmed: 14 4 2023
Statut: epublish

Résumé

(1) Introduction: Wilson's disease (WND) is an autosomal recessive disorder of copper metabolism. The WND gene is

Identifiants

pubmed: 37046505
pii: diagnostics13071287
doi: 10.3390/diagnostics13071287
pmc: PMC10093728
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

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Auteurs

Grażyna Gromadzka (G)

Medical Faculty, Collegium Medicum, Cardinal Stefan Wyszyński University in Warsaw, ul. Wóycickiego 1/3, 01-938 Warsaw, Poland.

Maria Bendykowska (M)

Medical Faculty, Collegium Medicum, Cardinal Stefan Wyszyński University in Warsaw, ul. Wóycickiego 1/3, 01-938 Warsaw, Poland.

Adam Przybyłkowski (A)

Department of Gastroenterology and Internal Medicine, Medical University of Warsaw, 02-091 Warszawa, Poland.

Classifications MeSH