Literature DB >> 2846283

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

D S Anson1, D J Blake, P R Winship, D Birnbaum, G G Brownlee.   

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.

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Year:  1988        PMID: 2846283      PMCID: PMC457070          DOI: 10.1002/j.1460-2075.1988.tb03134.x

Source DB:  PubMed          Journal:  EMBO J        ISSN: 0261-4189            Impact factor:   11.598


  29 in total

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5.  Loss of a c-H-ras-1 allele and aggressive human primary breast carcinomas.

Authors:  C Theillet; R Lidereau; C Escot; P Hutzell; M Brunet; J Gest; J Schlom; R Callahan
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8.  Localization of the mcf.2 transforming sequence to the X chromosome.

Authors:  T Noguchi; M G Mattei; I Oberlè; J Planche; J Imbert; C Pelassy; F Birg; D Birnbaum
Journal:  EMBO J       Date:  1987-05       Impact factor: 11.598

9.  Large scale physical mapping in the q27 region of the human X chromosome: the coagulation factor IX gene and the mcf.2 transforming sequence are separated by at most 270 kilobase pairs and are surrounded by several 'HTF islands'.

Authors:  C Nguyen; P Pontarotti; D Birnbaum; G Chimini; J A Rey; J F Mattei; B R Jordan
Journal:  EMBO J       Date:  1987-11       Impact factor: 11.598

10.  Gene transfer by means of cell fusion I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation.

Authors:  S J Goss; H Harris
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  7 in total

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2.  Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26).

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3.  Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array.

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Journal:  Haematologica       Date:  2011-10-11       Impact factor: 9.941

4.  The rates and patterns of deletions in the human factor IX gene.

Authors:  R P Ketterling; E L Vielhaber; T J Lind; E C Thorland; S S Sommer
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

5.  Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes.

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6.  Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.

Authors:  J Solera; M Magallón; J Martin-Villar; A Coloma
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7.  Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.

Authors:  M Ludwig; R Schwaab; A Eigel; J Horst; H Egli; H H Brackmann; K Olek
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

  7 in total

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