Nucleic Acids Res. 1994 Sep;22(17):3511-33.

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

Tuddenham EG, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM, Hoyer LW, Yoshioka A, et al.

Source

Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.

Corrected and republished in

Nucleic Acids Res. 1994 Nov 11;22(22):4851-68.

Abstract

A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.

PMID:: 7937051; [PubMed - indexed for MEDLINE]
PMCID:: PMC308313

Free PMC Article

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. [Nucleic Acids Res. 1994]
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Tuddenham EG, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM, Hoyer LW, Yoshioka A. Nucleic Acids Res. 1994 Nov 11; 22(22):4851-68.
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. [Nucleic Acids Res. 1991]
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.
Tuddenham EG, Cooper DN, Gitschier J, Higuchi M, Hoyer LW, Yoshioka A, Peake IR, Schwaab R, Olek K, Kazazian HH. Nucleic Acids Res. 1991 Sep 25; 19(18):4821-33.
Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations. [Thromb Haemost. 2006]
Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations.
Vinciguerra C, Zawadzki C, Dargaud Y, Pernod G, Berger C, Nougier C, Négrier C. Thromb Haemost. 2006 Apr; 95(4):593-9.
Review Molecular etiology of factor VIII deficiency in hemophilia A. [Hum Mutat. 1995]
Review Molecular etiology of factor VIII deficiency in hemophilia A.
Antonarakis SE, Kazazian HH, Tuddenham EG. Hum Mutat. 1995; 5(1):1-22.
Review New insight into the molecular basis of hemophilia A. [Int J Hematol. 2006]
Review New insight into the molecular basis of hemophilia A.
Oldenburg J, El-Maarri O. Int J Hematol. 2006 Feb; 83(2):96-102.

See reviews... See all...

Cited by 5 PubMed Central articles

microRNAs and genetic diseases. [Pathogenetics. 2009]
microRNAs and genetic diseases.
Meola N, Gennarino VA, Banfi S. Pathogenetics. 2009 Nov 4; 2(1):7. Epub 2009 Nov 4.
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene. [Am J Hum Genet. 1997]
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.
Young M, Inaba H, Hoyer LW, Higuchi M, Kazazian HH Jr, Antonarakis SE. Am J Hum Genet. 1997 Mar; 60(3):565-73.
Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A. [Biochem J. 1996]
Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A.
Voorberg J, de Laaf RT, Koster PM, van Mourik JA. Biochem J. 1996 Sep 15; 318 ( Pt 3):931-7.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Haemophilia A: database of nucleotide substitutions, deletions, insertions and r...
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Nucleic Acids Res. 1994 Sep ;22(17):3511-33.

PubMed
Classroom behavior of very low birth weight elementary school children.
Classroom behavior of very low birth weight elementary school children.
Pediatrics. 1994 Nov ;94(5):700-8.

PubMed
Treatment adherence.
Treatment adherence.
Br J Psychiatry. 1976 Dec ;129:513-31.

PubMed
The Drosophila TIS11 homologue encodes a developmentally controlled gene.
The Drosophila TIS11 homologue encodes a developmentally controlled gene.
Oncogene. 1994 Nov ;9(11):3329-34.

PubMed
Evaluation and treatment of changes in mood, sleep, and sexual functioning assoc...
Evaluation and treatment of changes in mood, sleep, and sexual functioning associated with menopause.
Obstet Gynecol Clin North Am. 1994 Jun ;21(2):391-403.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

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

Source

Corrected and republished in

Abstract

MeSH Terms, Substances

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 5 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information