A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease
about
Biochemical basis of regulation of human copper-transporting ATPasesViral infection and human disease--insights from minimotifsMenkes disease: what a multidisciplinary approach can doATP7A-related copper transport diseases-emerging concepts and future trendsFunctional copper transport explains neurologic sparing in occipital horn syndrome.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.A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotypeMultiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network.Copper stimulates trafficking of a distinct pool of the Menkes copper ATPase (ATP7A) to the plasma membrane and diverts it into a rapid recycling pool.Twenty-five novel mutations including duplications in the ATP7A gene.Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
P2860
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P2860
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A novel frameshift mutation in ...... rome and not in Menkes disease
@ast
A novel frameshift mutation in ...... rome and not in Menkes disease
@en
A novel frameshift mutation in ...... rome and not in Menkes disease
@nl
type
label
A novel frameshift mutation in ...... rome and not in Menkes disease
@ast
A novel frameshift mutation in ...... rome and not in Menkes disease
@en
A novel frameshift mutation in ...... rome and not in Menkes disease
@nl
prefLabel
A novel frameshift mutation in ...... rome and not in Menkes disease
@ast
A novel frameshift mutation in ...... rome and not in Menkes disease
@en
A novel frameshift mutation in ...... rome and not in Menkes disease
@nl
P2093
P2860
P3181
P356
P1476
A novel frameshift mutation in ...... rome and not in Menkes disease
@en
P2093
S L Dagenais
T W Glover
P2860
P3181
P356
10.1086/321290
P407
P577
2001-08-01T00:00:00Z