Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
about
Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same geneHeterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.Breaking away from home.CNS myelination and PLP gene dosage.Proteolipid protein cannot replace P0 protein as the major structural protein of peripheral nervous system myelin.Prenatal diagnosis of Pelizaeus-Merzbacher disease.Control of human PLP1 expression through transcriptional regulatory elements and alternatively spliced exons in intron 1Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardationThe myelin mutants as models to study myelin repair in the leukodystrophies.Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathyThe molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesPelizaeus-Merzbacher disease as a chromosomal disorder.Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders.Card15 mutations and gastric cancer in a Portuguese population.Myelin proteolipid protein (Plp) intron 1 DNA is required to temporally regulate Plp gene expression in the brain.Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
P2860
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P2860
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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name
Additional copies of the prote ...... gration into the X chromosome.
@ast
Additional copies of the prote ...... gration into the X chromosome.
@en
Additional copies of the prote ...... gration into the X chromosome.
@nl
type
label
Additional copies of the prote ...... gration into the X chromosome.
@ast
Additional copies of the prote ...... gration into the X chromosome.
@en
Additional copies of the prote ...... gration into the X chromosome.
@nl
prefLabel
Additional copies of the prote ...... gration into the X chromosome.
@ast
Additional copies of the prote ...... gration into the X chromosome.
@en
Additional copies of the prote ...... gration into the X chromosome.
@nl
P2093
P2860
P356
P1476
Additional copies of the prote ...... gration into the X chromosome.
@en
P2093
A Enrico-Simon
B S Emanuel
D Stambolian
E H Zackai
I T Thomas
K Crandall
K Woodward
N B Spinner
P2860
P356
10.1086/302965
P407
P577
2000-05-25T00:00:00Z