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Journal ArticleDOI

Genotyping and sequence analysis of apolipoprotein E isoforms

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TLDR
A genotypic method based on hybridization of allele-specific oligonucleotides with enzymatically amplified genomic DNA permits unambiguous diagnosis of six common apoE phenotypes within 24 h and finds two rare structural mutants of apo E2 in addition to the common E2 form.
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This article is published in Genomics.The article was published on 1988-11-01. It has received 314 citations till now. The article focuses on the topics: Apolipoprotein E & Genotyping.

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Citations
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Journal ArticleDOI

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.

TL;DR: This work has used restriction isotyping (restriction enzyme isoform genotyping) for rapid typing of common apolipoprotein E isoforms (E2, E3, E4) and distinguished each of the isoforms by a unique combination of HhaI fragment sizes that enabled unambiguous typing of all homozygotic and heterozygotic combinations.
Book ChapterDOI

Apolipoprotein E: Structure-Function Relationships

TL;DR: The three-dimensional structure of a 22-kDa fragment of human apoE is solved by X-ray crystallography and the relation of this structure to the role of apo E in lipoprotein metabolism is discussed, together with a critical and extensive examination of the chemistry and biology of this apolipoprotein.
Journal ArticleDOI

Cumulative use of strong anticholinergics and incident dementia: a prospective cohort study.

TL;DR: In this paper, the authors examined whether cumulative anticholinergic use is associated with a higher risk for incident dementia and found a 10-year cumulative dose-response relationship was observed for dementia and Alzheimer disease.
Journal ArticleDOI

Convenient single-step, one tube purification of PCR products for direct sequencing.

TL;DR: A new purification method using exonuclease I (exo I) and shrimp alkaline phosphatase (sAP) to degrade excess primers and nucleotides, which are the main factors interfering with dideoxy PCR sequencing.
References
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Journal ArticleDOI

DNA sequencing with chain-terminating inhibitors

TL;DR: A new method for determining nucleotide sequences in DNA is described, which makes use of the 2',3'-dideoxy and arabinon nucleoside analogues of the normal deoxynucleoside triphosphates, which act as specific chain-terminating inhibitors of DNA polymerase.
Journal ArticleDOI

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

TL;DR: A thermostable DNA polymerase was used in an in vitro DNA amplification procedure, the polymerase chain reaction, which significantly improves the specificity, yield, sensitivity, and length of products that can be amplified.
Journal ArticleDOI

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

TL;DR: Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia, using primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase of target DNA copies.
Book

The metabolic basis of inherited disease

TL;DR: The metabolic basis of inherited disease, the metabolic basis for inherited disease as mentioned in this paper, The metabolic basis in inherited disease and inherited diseases, and inherited disease diagnosis and management, in the context of inherited diseases
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