Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
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Pseudoautosomal region 1 length polymorphism in the human populationGenotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.Genome architecture and its roles in human copy number variation.Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Molecular basis for cytoplasmic RNA surveillance by uridylation-triggered decay in Drosophila.A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.
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Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 March 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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name
Homozygous deletion of DIS3L2 ...... patient with Perlman syndrome.
@en
Homozygous deletion of DIS3L2 ...... patient with Perlman syndrome.
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type
label
Homozygous deletion of DIS3L2 ...... patient with Perlman syndrome.
@en
Homozygous deletion of DIS3L2 ...... patient with Perlman syndrome.
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prefLabel
Homozygous deletion of DIS3L2 ...... patient with Perlman syndrome.
@en
Homozygous deletion of DIS3L2 ...... patient with Perlman syndrome.
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P356
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Homozygous deletion of DIS3L2 ...... patient with Perlman syndrome
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P2093
Akiko Hirose
Hitomi Yatsuki
Junichiro Okada
Kayoko Koide
Keiichiro Joh
Ken Higashimoto
Kenichi Nishioka
Kensaku Sasaki
Koh-ichiro Yoshiura
Makoto Nomiyama
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P2888
P304
P356
10.1038/EJHG.2013.45
P577
2013-03-13T00:00:00Z