Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. - Wikidata - wikimedia - TriplyDB

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

http://www.wikidata.org/entity/Q34996588

about

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing Menkes disease: what a multidisciplinary approach can do Genetics of Hereditary Ataxia in Scottish Terriers.Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.Molecular correlates of epilepsy in early diagnosed and treated Menkes disease Diagnosis of copper transport disorders.The human sex ratio from conception to birth.Clinical expression of Menkes disease in females with normal karyotype.A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.The Role of X-Chromosome Inactivation in Retinal Development and Disease.Menkes disease and response to copper histidine: An Indian case series An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Epilepsy in children with Menkes disease: a systematic review of literature.Incontinentia pigmenti: report on data from 2000 to 2013.Menkes disease with discordant phenotype in female monozygotic twins.

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P2860

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

http://www.wikidata.org/entity/Q34996588

description

2011 nî lūn-bûn

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2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի փետրվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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type

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Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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Favorably skewed X-inactivatio ...... le carriers of Menkes disease.

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Clinical Genetics

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A Donsante

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J Thompson

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K J Swoboda

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M Martensen

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S G Kaler

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V Desai

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P2860

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

Neonatal diagnosis and treatment of Menkes disease

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins

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

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Menkes protein contributes to the function of peptidylglycine alpha-amidating monooxygenase

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176-182

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10.1111/J.1399-0004.2010.01451.X

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