Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome
about
Ehlers-Danlos syndrome type IVCloning and characterization of a third human lysyl hydroxylase isoformDissecting the genetics of human high myopia: a molecular biologic approachRNAs in the sera of Persian Gulf War veterans have segments homologous to chromosome 22q11.2.Ehlers-Danlos syndrome has varied molecular mechanisms.Tandem repeats and G-rich sequences are enriched at human CNV breakpointsDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndromeA recurrent translocation is mediated by homologous recombination between HERV-H elements.An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Roles of PLODs in Collagen Synthesis and Cancer Progression.
P2860
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P2860
Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome
description
1994 nî lūn-bûn
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1994年の論文
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1994年論文
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1994年論文
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name
Alu-Alu recombination results ...... iant of Ehlers-Danlos syndrome
@ast
Alu-Alu recombination results ...... iant of Ehlers-Danlos syndrome
@en
type
label
Alu-Alu recombination results ...... iant of Ehlers-Danlos syndrome
@ast
Alu-Alu recombination results ...... iant of Ehlers-Danlos syndrome
@en
prefLabel
Alu-Alu recombination results ...... iant of Ehlers-Danlos syndrome
@ast
Alu-Alu recombination results ...... iant of Ehlers-Danlos syndrome
@en
P2093
P2860
P1476
Alu-Alu recombination results ...... iant of Ehlers-Danlos syndrome
@en
P2093
P2860
P304
P407
P577
1994-11-01T00:00:00Z