Identification of point mutations in 41 unrelated patients affected with Menkes disease
about
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndromeA C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome familyMenkes disease: what a multidisciplinary approach can doStructural biology of copper traffickingATP7A-related copper transport diseases-emerging concepts and future trendsAbnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes diseaseMenkes disease: recent advances and new aspectsFibroblast silver loading for the diagnosis of Menkes diseaseSplice site mutations in the ATP7A gene.Molecular and behavioral analysis of four period mutants in Drosophila melanogaster encompassing extreme short, novel long, and unorthodox arrhythmic typesMutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.Clinical utility gene card for: Menkes disease.A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotypeCharacterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).The mild form of menkes disease: a 34 year progress report on the original case.
P2860
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P2860
Identification of point mutations in 41 unrelated patients affected with Menkes disease
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@ast
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@en
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@nl
type
label
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@ast
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@en
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@nl
prefLabel
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@ast
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@en
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@nl
P2093
P2860
P3181
P1476
Identification of point mutations in 41 unrelated patients affected with Menkes disease
@en
P2093
P2860
P3181
P407
P577
1997-01-01T00:00:00Z