Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients

Anson, D. S., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Winship, P. R., Birnbaum, D. and Brownlee, G. G. 1988. Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients. EMBO Journal 7 (9) , pp. 2795-2799.

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Abstract

The mcf.2 transforming gene sequence has been located to the region between 29 and 61 kb 3' of the factor IX gene. Two unrelated haemophilia B patients who raise antibodies to infused factor IX ('inhibitors') have deletions in excess of 273 kb encompassing the factor IX and mcf.2 genes and a CG-rich island. We believe these patients show the first nullisomic deletion of a transforming gene to be reported. No clinical condition can be attributed to the loss of the mcf.2 gene.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	European Molecular Biology Organization; Nature Publishing Group
ISSN:	0261-4189
Related URLs:	http://www.ncbi.nlm.nih.gov/pubmed/28462...
Last Modified:	25 Oct 2022 08:17
URI:	https://orca.cardiff.ac.uk/id/eprint/52162

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