Characterization of the exon structure of the Menkes disease gene using vectorette PCR
about
Reanalysis of ATP11B, a type IV P-type ATPaseBiochemical characterization and intracellular localization of the Menkes disease proteinSimilar 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 familyIdentification of point mutations in 41 unrelated patients affected with Menkes diseaseA novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes diseaseAbnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes diseaseDefective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes diseaseAT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes.Menkes disease: recent advances and new aspectsModeling a dehalogenase fold into the 8-A density map for Ca(2+)-ATPase defines a new domain structureFavorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.Calcium and copper transport ATPases: analogies and diversities in transduction and signaling mechanisms.Targeting of glycoprotein I (gE) of varicella-zoster virus to the trans-Golgi network by an AYRV sequence and an acidic amino acid-rich patch in the cytosolic domain of the molecule.Distinctive features of catalytic and transport mechanisms in mammalian sarco-endoplasmic reticulum Ca2+ ATPase (SERCA) and Cu+ (ATP7A/B) ATPasesA novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes diseaseAn overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Menkes disease: recent advances and new insights into copper metabolism.Evidence for a Menkes-like protein with a nuclear targeting sequence.Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.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.
P2860
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P2860
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
description
1995 nî lūn-bûn
@nan
1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@ast
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@en
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@nl
type
label
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@ast
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@en
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@nl
prefLabel
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@ast
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@en
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@nl
P2093
P1433
P1476
Characterization of the exon structure of the Menkes disease gene using vectorette PCR
@en
P2093
P304
P356
10.1016/0888-7543(95)80160-N
P407
P50
P577
1995-04-01T00:00:00Z