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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
De Meirleir, L; Seneca, S; Lissens, W; De Clercq, I; Eyskens, F; Gerlo, E; Smet, J; Van Coster, R.
Affiliation
  • De Meirleir L; Department of Paediatric Neurology, University Hospital Vrije Universiteit Brussel (AZK-VUB), Brussels, Belgium. linda.demeirleir@az.vub.ac.be
J Med Genet ; 41(2): 120-4, 2004 Feb.
Article in En | MEDLINE | ID: mdl-14757859
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Proton-Translocating ATPases / Adenosine Triphosphatases / Chaperonins / Mitochondrial Diseases / Saccharomyces cerevisiae Proteins / Membrane Proteins / Mutation Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: J Med Genet Year: 2004 Type: Article Affiliation country: Belgium
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Proton-Translocating ATPases / Adenosine Triphosphatases / Chaperonins / Mitochondrial Diseases / Saccharomyces cerevisiae Proteins / Membrane Proteins / Mutation Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: J Med Genet Year: 2004 Type: Article Affiliation country: Belgium