Literature DB >> 1852619

Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis.

E I Schwartz1, S P Shevtsov, A P Kuchinski, O V Plutalov.   

Abstract

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Year:  1991        PMID： 1852619      PMCID： PMC328417          DOI： 10.1093/nar/19.13.3752

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  11 in total

1.  Dinucleotide repeat polymorphism at the D10S89 locus.

Authors:  J L Weber; P E May
Journal:  Nucleic Acids Res       Date:  1990-08-11       Impact factor: 16.971

Review 2.  The genetic dyslipoproteinemias--nosology update 1990.

Authors:  G Schonfeld
Journal:  Atherosclerosis       Date:  1990-03       Impact factor: 5.162

3.  Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases.

Authors:  A Tybjaerg-Hansen; J Gallagher; J Vincent; R Houlston; P Talmud; A M Dunning; M Seed; A Hamsten; S E Humphries; N B Myant
Journal:  Atherosclerosis       Date:  1990-01       Impact factor: 5.162

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

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

Review 5.  Report of the committee on the genetic constitution of chromosome 11.

Authors:  C Junien; O W McBride
Journal:  Cytogenet Cell Genet       Date:  1989

6.  Modification of enzymatically amplified DNA for the detection of point mutations.

Authors:  A Haliassos; J C Chomel; L Tesson; M Baudis; J Kruh; J C Kaplan; A Kitzis
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

7.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

8.  Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich.

Authors:  H Schuster; G Rauh; B Kormann; T Hepp; S Humphries; C Keller; G Wolfram; N Zöllner
Journal:  Arteriosclerosis       Date:  1990 Jul-Aug

9.  Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

Authors:  L F Soria; E H Ludwig; H R Clarke; G L Vega; S M Grundy; B J McCarthy
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

10.  Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol.

Authors:  T Hämäläinen; A Palotie; K Aalto-Setälä; K Kontula; M J Tikkanen
Journal:  Atherosclerosis       Date:  1990-06       Impact factor: 5.162
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  7 in total

1.  Detection of a new polymorphism of the human prothrombin (F2) gene by combination of PASA and mutated primer-mediated PCR-RFLP.

Authors:  H Iwahana; N Mizusawa; K Yoshimoto; M Itakura
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  First International Workshop on Familial Defective apo B-100, Munich, November 1991.

Authors:  H Schuster; S Humphries; G Rauh; C Keller
Journal:  Clin Investig       Date:  1992-10

3.  Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

Authors:  M Chmara; B Wasag; M Zuk; J Kubalska; A Wegrzyn; M Bednarska-Makaruk; E Pronicka; H Wehr; J C Defesche; A Rynkiewicz; J Limon
Journal:  J Appl Genet       Date:  2010       Impact factor: 3.240

4.  Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia.

Authors:  H Iwahana; K Yoshimoto; T Shigekiyo; A Shirakami; S Saito; M Itakura
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

Review 5.  Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.

Authors:  V S Baranov
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

6.  Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Authors:  Barbara Tappino; Roberta Biancheri; Matthew Mort; Stefano Regis; Fabio Corsolini; Andrea Rossi; Marina Stroppiano; Susanna Lualdi; Agata Fiumara; Bruno Bembi; Maja Di Rocco; David N Cooper; Mirella Filocamo
Journal:  Hum Mutat       Date:  2010-12       Impact factor: 4.878

7.  Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.

Authors:  Serena Grossi; Stefano Regis; Roberta Biancheri; Matthew Mort; Susanna Lualdi; Enrico Bertini; Graziella Uziel; Odile Boespflug-Tanguy; Alessandro Simonati; Fabio Corsolini; Ercan Demir; Valentina Marchiani; Antonio Percesepe; Franco Stanzial; Andrea Rossi; Catherine Vaurs-Barrière; David N Cooper; Mirella Filocamo
Journal:  Orphanet J Rare Dis       Date:  2011-06-16       Impact factor: 4.123
  7 in total

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