Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia
about
A composite transposon 3' to the cow fetal globin gene binds a sequence specific factorConstruction of a human chromosome 4 YAC pool and analysis of artificial chromosome stability.A study of familial hypercholesterolaemia in Iceland using RFLPs.Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.Molecular basis of human growth hormone gene deletions.Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotypeLocalization of preferential sites of rearrangement within the BCR gene in Philadelphia chromosome-positive acute lymphoblastic leukemiaShort, direct repeats at the breakpoints of deletions of the retinoblastoma gene.Molecular studies of deletions at the human steroid sulfatase locus.DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosisTopoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.Factors affecting inverted repeat stimulation of recombination and deletion in Saccharomyces cerevisiaeAn allele of RFA1 suppresses RAD52-dependent double-strand break repair in Saccharomyces cerevisiaeCharacterization of five partial deletions of the factor VIII gene.Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase geneIdentification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors.Majority of divergence between closely related DNA samples is due to indels.Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.Molecular spectrum of autosomal dominant hypercholesterolemia in France.Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia)Comparative mapping of the constitutional and tumor-associated 11;22 translocations.Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.Somatic mosaicism in a patient with bilateral retinoblastoma.Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)Polymorphic DNA haplotypes at the LDL receptor locusUniversal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor geneMultiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletionsMolecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.Human retinoblastoma gene: long-range mapping and analysis of its deletion in a breast cancer cell lineCompilation of DNA strand exchange sites for non-homologous recombination in somatic cells.Breakpoint junctions of chromosome 9p deletions in two human glioma cell lines.Molecular origin of the mosaic sequence arrangements of higher primate alpha-globin duplication units.Inverted repeat structure of the Sry locus in mice.Integration of a vector containing rodent repetitive elements in the rat genome.One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.
P2860
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P2860
Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia
description
1986 nî lūn-bûn
@nan
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
1986年论文
@zh
1986年论文
@zh-cn
name
Exon-Alu recombination deletes ...... familial hypercholesterolemia
@ast
Exon-Alu recombination deletes ...... familial hypercholesterolemia
@en
type
label
Exon-Alu recombination deletes ...... familial hypercholesterolemia
@ast
Exon-Alu recombination deletes ...... familial hypercholesterolemia
@en
prefLabel
Exon-Alu recombination deletes ...... familial hypercholesterolemia
@ast
Exon-Alu recombination deletes ...... familial hypercholesterolemia
@en
P2093
P2860
P356
P1476
Exon-Alu recombination deletes ...... familial hypercholesterolemia
@en
P2093
D W Russell
J L Goldstein
M A Lehrman
P2860
P304
P356
10.1073/PNAS.83.11.3679
P407
P577
1986-06-01T00:00:00Z