Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22
about
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variationsChromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsUnusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 geneInsertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher diseaseAlu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher diseaseGait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Replicative mechanisms for CNV formation are error prone.Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
P2860
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P2860
Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22
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2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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name
Evidence for disease penetranc ...... lial 11 Mb duplication at Xq22
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Evidence for disease penetranc ...... lial 11 Mb duplication at Xq22
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type
label
Evidence for disease penetranc ...... lial 11 Mb duplication at Xq22
@ast
Evidence for disease penetranc ...... lial 11 Mb duplication at Xq22
@en
prefLabel
Evidence for disease penetranc ...... lial 11 Mb duplication at Xq22
@ast
Evidence for disease penetranc ...... lial 11 Mb duplication at Xq22
@en
P2093
P2860
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Evidence for disease penetranc ...... lial 11 Mb duplication at Xq22
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P2860
P304
P356
10.1111/J.1399-0004.2011.01716.X
P577
2011-06-20T00:00:00Z