(Q45869186)

17 December 2017

title

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype (English)

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17 December 2017

main subject

hemophilia

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Coagulation factor VIII

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hemophilia A

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author name string

S I Bidichandani

1

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17 December 2017

W G Lanyon

2

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17 December 2017

C R Shiach

3

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17 December 2017

G D Lowe

4

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17 December 2017

J M Connor

5

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17 December 2017

publication date

1 May 1995

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17 December 2017

published in

Human Genetics

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17 December 2017

volume

95

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17 December 2017

issue

5

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17 December 2017

page(s)

531-538

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17 December 2017

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

cites work

1 reference

12 December 2020

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

1 reference

12 December 2020

Casein kinase 2: an 'eminence grise' in cellular regulation?

1 reference

12 December 2020

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

1 reference

12 December 2020

The blue oxidases, ascorbate oxidase, laccase and ceruloplasmin. Modelling and structural relationships

1 reference

12 December 2020

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

1 reference

12 December 2020

Sequence of the murine factor VIII cDNA.

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.

1 reference

12 December 2020

Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders

1 reference

12 December 2020

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

12 December 2020

Synthetic factor VIII peptides with amino acid sequences contained within the C2 domain of factor VIII inhibit factor VIII binding to phosphatidylserine

1 reference

12 December 2020

Molecular basis of factor VIII inhibition by human antibodies. Antibodies that bind to the factor VIII light chain prevent the interaction of factor VIII with phospholipid

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12 December 2020

Finding sequence motifs in groups of functionally related proteins

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12 December 2020

Structure of human factor VIII

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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12 December 2020

A comprehensive set of sequence analysis programs for the VAX

1 reference

12 December 2020

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

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12 December 2020

Illegitimate transcription: transcription of any gene in any cell type

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12 December 2020

Structure-function relationships of factor VIII elucidated through recombinant DNA technology

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12 December 2020

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication

1 reference

12 December 2020

Complete cDNA sequence of human preceruloplasmin

1 reference

12 December 2020

Characterization of genetic defects of hemophilia A in patients of Chinese origin

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12 December 2020

Expression of active human factor VIII from recombinant DNA clones

1 reference

12 December 2020

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

12 December 2020

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

12 December 2020

The PROSITE dictionary of sites and patterns in proteins, its current status

1 reference

12 December 2020

A structure-derived sequence pattern for the detection of type I copper binding domains in distantly related proteins

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00223865

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17 December 2017

Dimensions Publication ID

1024834192

0 references

1 reference

17 December 2017