Characterization of genetic defects of hemophilia A in patients of Chinese origin (Q72771907)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8307558 AND SRC:MED&resulttype=core&format=json

29 October 2019

title

Characterization of genetic defects of hemophilia A in patients of Chinese origin (English)

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29 October 2019

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Lin SW

1

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29 October 2019

Lin SR

series ordinal

2

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29 October 2019

Shen MC

series ordinal

3

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29 October 2019

publication date

1 December 1993

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29 October 2019

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29 October 2019

volume

18

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29 October 2019

issue

3

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29 October 2019

page(s)

496-504

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Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

29 October 2019

cites work

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CpG-rich islands and the function of DNA methylation

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Coagulation factors V and VIII and ceruloplasmin constitute a family of structurally related proteins

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DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

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Characterization of the human factor VIII gene

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7 January 2021

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

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7 January 2021

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

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7 January 2021

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

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7 January 2021

The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI.

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7 January 2021

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

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7 January 2021

Factor VIII gene explains all cases of haemophilia A

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7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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7 January 2021

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection

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7 January 2021

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

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Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP

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Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

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7 January 2021

Molecular cloning of a cDNA encoding human antihaemophilic factor

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7 January 2021

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene

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7 January 2021

Structure of human factor VIII

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https://api.crossref.org/works/10.1016/S0888-7543(11)80005-4

7 January 2021

Expression of active human factor VIII from recombinant DNA clones

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7 January 2021

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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7 January 2021

10.1016/S0888-7543(11)80005-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8307558 AND SRC:MED&resulttype=core&format=json

29 October 2019

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