Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

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http://www.wikidata.org/entity/Q47367419
Menkes disease: what a multidisciplinary approach can doMottled Mice and Non-Mammalian Models of Menkes DiseaseThe copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expressionATP7A-related copper transport diseases-emerging concepts and future trendsEvidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.Clinical utility gene card for: Menkes disease.Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.Identification of disease genes by whole genome CGH arrays.Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease.Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes diseaseMacrocephaly with diffuse white matter changes simulating a leukodystrophy in Menkes disease.Twenty-five novel mutations including duplications in the ATP7A gene.13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.
P2860

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

Item
http://www.wikidata.org/entity/Q47367419
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
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name
Screening of 383 unrelated pat ...... f 57 gross deletions in ATP7A.
@en
Screening of 383 unrelated pat ...... f 57 gross deletions in ATP7A.
@nl
type
label
Screening of 383 unrelated pat ...... f 57 gross deletions in ATP7A.
@en
Screening of 383 unrelated pat ...... f 57 gross deletions in ATP7A.
@nl
prefLabel
Screening of 383 unrelated pat ...... f 57 gross deletions in ATP7A.
@en
Screening of 383 unrelated pat ...... f 57 gross deletions in ATP7A.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Screening of 383 unrelated pat ...... f 57 gross deletions in ATP7A.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698