Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene (Q45880510)

17 December 2017

title

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene (English)

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)92450-G

25 October 2022

main subject

hemophilia

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Coagulation factor VIII

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J. A. Naylor

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671991

25 October 2022

P. M. Green

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671991

25 October 2022

A. J. Montandon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671991

25 October 2022

C. R. Rizza

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671991

25 October 2022

F. Giannelli

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671991

25 October 2022

language of work or name

English

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publication date

1 March 1991

1 reference

17 December 2017

16 March 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1671991

full work available at URL

25 October 2022

https://api.elsevier.com/content/article/PII:014067369192450G?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)92450-G

https://api.elsevier.com/content/article/PII:014067369192450G?httpAccept=text/plain

25 October 2022

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)92450-G

25 October 2022

1 reference

17 December 2017

volume

337

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17 December 2017

issue

8742

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17 December 2017

page(s)

635-639

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17 December 2017

Factor VIII and haemophilia A.

cites work

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Characterization of the human factor VIII gene

25 October 2022

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Expression of active human factor VIII from recombinant DNA clones

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Molecular cloning of a cDNA encoding human antihaemophilic factor

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Complete cDNA and derived amino acid sequence of human factor V

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Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity

25 October 2022

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Detection and sequence of mutations in the factor VIII gene of haemophiliacs

25 October 2022

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Molecular analysis of hemophilia A mutations in the Finnish population

25 October 2022

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Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

25 October 2022

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Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

25 October 2022

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Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

25 October 2022

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Illegitimate transcription: transcription of any gene in any cell type

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Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

25 October 2022

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

25 October 2022

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DNA sequencing with chain-terminating inhibitors

25 October 2022

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An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

25 October 2022

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Improvement of PCR amplified DNA sequencing with the aid of detergents

25 October 2022

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Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.

25 October 2022

22

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Diagnosis of beta-thalassaemia by DNA amplification in single blastomeres from mouse preimplantation embryos

25 October 2022

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The organization of 3' splice-site sequences in mammalian introns

25 October 2022

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Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

25 October 2022

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Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

25 October 2022

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The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

25 October 2022

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Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp

25 October 2022

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Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).

25 October 2022

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Haemophilia B: database of point mutations and short additions and deletions

25 October 2022

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cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal growth factor-like domains linked to factor VIII-like sequences

25 October 2022

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1 reference

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25 October 2022

Identifiers

1 reference

17 December 2017

1 reference

17 December 2017