(Q24336737)

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Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion

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Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion (English)

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1 reference

GOA release 2020-03-11

author name string

R A Wetsel

1

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J Kulics

2

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M L Lokki

3

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P Kiepiela

4

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H Akama

5

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C A Johnson

6

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P Densen

7

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H R Colten

8

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language of work or name

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publication date

8 March 1996

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Journal of Biological Chemistry

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271

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10

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5824-31

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Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf

1 reference

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A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B

1 reference

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21 January 2018

Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement.

1 reference

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Inherited deficiency of the second component of complement. Rheumatic disease associations

1 reference

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Deficiency of the second complement component association with the HLA haplotype A10, B18 in a normal population

1 reference

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Complement-human histocompatibility antigen haplotypes in C2 deficiency

1 reference

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Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I

1 reference

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Isolation of a complementary DNA clone for the human complement protein C2 and its use in the identification of a restriction fragment length polymorphism

1 reference

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Rapid transfer of DNA from agarose gels to nylon membranes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.10.5824

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Expression of complement proteins C2 and factor B in transfected L cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.10.5824

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.10.5824

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A simple and very efficient method for generating cDNA libraries

1 reference

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

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

1 reference

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The fidelity of Taq polymerase catalyzing PCR is improved by an N-terminal deletion.

1 reference

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Primary structure of human complement component C2. Homology to two unrelated protein families

1 reference

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The molecular basis of alpha 1-antichymotrypsin deficiency in a heterozygote with liver and lung disease

1 reference

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A single amino acid substitution in the variable region of the light chain specifically blocks immunoglobulin secretion

1 reference

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The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

1 reference

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Infectious diseases associated with complement deficiencies

1 reference

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Sequential interaction of the chaperones BiP and GRP94 with immunoglobulin chains in the endoplasmic reticulum

1 reference

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Association of class I, II, and III MHC gene products with systemic lupus erythematosus. Results of a Central European multicenter study

1 reference

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based on heuristic

inferred from DOI database lookup

The location of C2, C4, and BF relative to HLA-B and HLA-D

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

17 A rapid alkaline extraction method for the isolation of plasmid DNA

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Inherited deficiencies of complement components in man

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular heterogeneity of C2 deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations

1 reference

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based on heuristic

inferred from DOI database lookup

Prevalence of the type I complement C2 deficiency gene in Swedish systemic lupus erythematosus patients

1 reference

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based on heuristic

inferred from DOI database lookup

Identifiers

10.1074/JBC.271.10.5824

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