The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome
about
Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorderPelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variantPelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid proteinVariable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.CNS myelination and PLP gene dosage.Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainMolecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical GroupA myelin proteolipid protein-LacZ fusion protein is developmentally regulated and targeted to the myelin membrane in transgenic mice.The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.Molecular biology of myelin proteins from the central nervous system.The proteolipid protein gene.Differential sensitivity in the survival of oligodendrocyte cell lines to overexpression of myelin proteolipid protein gene products.Glial transplants: an in vivo analysis of extrinsic and intrinsic determinants of dysmyelination in genetic variants.Pelizaeus-merzbacher disease: the first genetically approved case report from iran.Myelin proteolipid protein (PLP and DM-20) transcripts are deleted in jimpy mutant mice.Myelin proteolipid protein gene expression in jimpy and jimpy(msd) mice.An AG----GG transition at a splice site in the myelin proteolipid protein gene in jimpy mice results in the removal of an exon.Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.A Point Mutation at the X-Chromosomal Proteolipid Protein Locus in Pelizaeus-Merzbacher Disease Leads to Disruption of MyelinogenesisRole of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
P2860
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P2860
The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome
description
1986 nî lūn-bûn
@nan
1986 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
The gene encoding for the majo ...... band of the human X chromosome
@ast
The gene encoding for the majo ...... band of the human X chromosome
@en
The gene encoding for the majo ...... band of the human X chromosome
@nl
type
label
The gene encoding for the majo ...... band of the human X chromosome
@ast
The gene encoding for the majo ...... band of the human X chromosome
@en
The gene encoding for the majo ...... band of the human X chromosome
@nl
prefLabel
The gene encoding for the majo ...... band of the human X chromosome
@ast
The gene encoding for the majo ...... band of the human X chromosome
@en
The gene encoding for the majo ...... band of the human X chromosome
@nl
P2093
P356
P1433
P1476
The gene encoding for the majo ...... band of the human X chromosome
@en
P2093
A Dautigny
D Pham-Dinh
J F Mattei
M G Mattei
P M Alliel
P2888
P356
10.1007/BF00290964
P407
P577
1986-04-01T00:00:00Z
P6179
1012228176