Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

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http://www.wikidata.org/entity/Q34051012
Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exonMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyATP7A-related copper transport diseases-emerging concepts and future trendsInherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.Innovative therapy for Classic Galactosemia - tale of two HTS.Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.Tandem termination signal in plant mRNAs.Molecular correlates of epilepsy in early diagnosed and treated Menkes diseaseClinical presentation and mutations in Danish patients with Wilson disease.POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.In utero copper treatment for Menkes disease associated with a severe ATP7A mutationClinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
P2860

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

Item
http://www.wikidata.org/entity/Q34051012
description
2009 nî lūn-bûn
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2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
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2009年の論文
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