Catheters, Indwelling < Cation Transport Proteins (genetics) < Cation Transport Proteins (physiology)

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List of bibliographic references indexed by Cation Transport Proteins (genetics)

Number of relevant bibliographic references: 8.

Ident.	Authors (with country if any)	Title
000444 (2014)	Jean-Marc Trocello [France] ; Souleiman El Balkhi ; France Woimant ; Nadège Girardot-Tinant ; Philippe Chappuis ; Carla Lloyd ; Joël Poupon	Relative exchangeable copper: a promising tool for family screening in Wilson disease.
000842 (2013)	Cathérine C S. Delnooz ; Ron A. Wevers ; Marialuisa Quadri ; Peter T. Clayton ; Philippa B. Mills ; Karin Tuschl ; Eric J. Steenbergen ; Vincenzo Bonifati ; Bart P C. Van De Warrenburg	Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
000893 (2013)	Yves Denoyer ; France Woimant ; Muriel Bost ; Gilles Edan ; Sophie Drapier	Neurological Wilson's disease lethal for the son, asymptomatic in the father.
001136 (2012)	Maria Stamelou [Royaume-Uni] ; Karin Tuschl [Royaume-Uni] ; W. K. Chong [Royaume-Uni] ; Andrew K. Burroughs [Royaume-Uni] ; Philippa B. Mills [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Peter T. Clayton [Royaume-Uni]	Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder
001F79 (2009)	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]	“Acquired” hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene
003115 (2006)	Graznya Gromadzka [Pologne] ; Harmut H. J. Schmidt [Allemagne] ; Janine Genschel [Allemagne] ; Bettina Bochow [Allemagne] ; M. Rodo [Pologne] ; Beatek Tarnacka [Pologne] ; Thomas Litwin [Pologne] ; Grzegorz Chabik [Pologne] ; Anna Członkowska [Pologne]	p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease
003248 (2006)	Jens Carsten Möller [Allemagne] ; Barbara Leinweber [Allemagne] ; Ida Rissling [Allemagne] ; Wolfgang Herman Oertel [Allemagne] ; Oliver Bandmann [Royaume-Uni] ; Hartmut H. Schmidt [Allemagne]	Prevalence of the H1069Q mutation in ATP7B in discordant pairs with early‐onset Parkinson's Disease
004467 (2002)	Georg Becker [Allemagne] ; Daniela Berg [Allemagne] ; Niels Kruse [Allemagne] ; Ute Schröder [Allemagne] ; Monika Warmuth-Metz [Allemagne] ; Peter Rieckmann [Allemagne] ; Markus Naumann [Allemagne] ; Karlheinz Reiners [Allemagne]	Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse

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