A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease

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A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease

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bilimsel makale

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scientific article published on 05 January 2014

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vedecký článok

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A novel two-nucleotide deletio ...... antile onset of Menkes disease

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A novel two-nucleotide deletio ...... ntile onset of Menkes disease.

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A novel two-nucleotide deletio ...... antile onset of Menkes disease

@en

A novel two-nucleotide deletio ...... ntile onset of Menkes disease.

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A novel two-nucleotide deletio ...... antile onset of Menkes disease

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A novel two-nucleotide deletio ...... ntile onset of Menkes disease.

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P1476

A novel two-nucleotide deletio ...... antile onset of Menkes disease

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P2093

Akiko Sasaki

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Hiroko Kodama

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Hiroko Shimbo

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Hitoshi Osaka

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Ling Yi

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Marie Reine Haddad

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Stephen G Kaler

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Takahito Wada

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Tomomi Murakami

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P2860

Neonatal diagnosis and treatment of Menkes disease

Diverse mutations in patients with Menkes disease often lead to exon skipping

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Isolation of a partial candidate gene for Menkes disease by positional cloning

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

In utero copper treatment for Menkes disease associated with a severe ATP7A mutation

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

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417-420

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scholarly article

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10.1016/J.PEDIATRNEUROL.2014.01.005

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P433

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P478

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2014-01-05T00:00:00Z

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24630286

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3959660

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