Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.
about
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probesGenomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemiaDeletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit.A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease.Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)Polymorphic DNA haplotypes at the LDL receptor locusMultiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletionsExon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemiaOne short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.AvaII polymorphism in the human LDL receptor gene.A hotspot for novel amplification joints in a mosaic of Alu-like repeats and palindromic A + T-rich DNA.Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.
P2860
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P2860
Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.
description
1985 nî lūn-bûn
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1985年の論文
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1985年学术文章
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1985年学术文章
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1985年学术文章
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1985年学术文章
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1985年學術文章
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name
Polymorphism and evolution of ...... ity lipoprotein receptor gene.
@en
Polymorphism and evolution of ...... ity lipoprotein receptor gene.
@nl
type
label
Polymorphism and evolution of ...... ity lipoprotein receptor gene.
@en
Polymorphism and evolution of ...... ity lipoprotein receptor gene.
@nl
prefLabel
Polymorphism and evolution of ...... ity lipoprotein receptor gene.
@en
Polymorphism and evolution of ...... ity lipoprotein receptor gene.
@nl
P2093
P2860
P356
P1476
Polymorphism and evolution of ...... ity lipoprotein receptor gene.
@en
P2093
D W Russell
M A Lehrman
T Yamamoto
P2860
P304
P356
10.1073/PNAS.82.22.7651
P407
P577
1985-11-01T00:00:00Z