Identifikácia de novo mutácie v géne pre faktor FVIII:C v rodine pozadujúcej prenatálnu diagnostiku hemofílie A.

J. Gécz; L. Saksová; L. Kádasi; E. Véghová

Identifikácia de novo mutácie v géne pre faktor FVIII:C v rodine pozadujúcej prenatálnu diagnostiku hemofílie A.

Translated title of the contribution: Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A

J. Gécz, L. Saksová, L. Kádasi, E. Véghová

Research output: Contribution to journal › Article › peer-review

Abstract

Hemophilia is caused by wide spectrum of different mutations in the F8C gene which made the direct DNA diagnosis of the diseases not the case of choice. Indirect DNA diagnosis by means of linked restriction fragment length polymorphisms (RFLPs) provides the alternative. Using this method authors identified de novo mutation in a family requiring prenatal diagnosis of hemophilia A. This de novo mutation arose during the spermatogenesis of the proband's father. Attempts to characterize the mutation on the molecular level are presented. (Ref. 15, Fig. 1.).

Translated title of the contribution	Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A
Original language	Slovak
Pages (from-to)	459-462
Number of pages	4
Journal	Bratislavské lekárske listy
Volume	93
Issue number	9
Publication status	Published or Issued - 1992
Externally published	Yes

ASJC Scopus subject areas

General Medicine

Cite this

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title = "Identifik{\'a}cia de novo mut{\'a}cie v g{\'e}ne pre faktor FVIII:C v rodine pozaduj{\'u}cej prenat{\'a}lnu diagnostiku hemof{\'i}lie A.",

abstract = "Hemophilia is caused by wide spectrum of different mutations in the F8C gene which made the direct DNA diagnosis of the diseases not the case of choice. Indirect DNA diagnosis by means of linked restriction fragment length polymorphisms (RFLPs) provides the alternative. Using this method authors identified de novo mutation in a family requiring prenatal diagnosis of hemophilia A. This de novo mutation arose during the spermatogenesis of the proband's father. Attempts to characterize the mutation on the molecular level are presented. (Ref. 15, Fig. 1.).",

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year = "1992",

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T1 - Identifikácia de novo mutácie v géne pre faktor FVIII:C v rodine pozadujúcej prenatálnu diagnostiku hemofílie A.

AU - Gécz, J.

AU - Saksová, L.

AU - Kádasi, L.

AU - Véghová, E.

PY - 1992

Y1 - 1992

N2 - Hemophilia is caused by wide spectrum of different mutations in the F8C gene which made the direct DNA diagnosis of the diseases not the case of choice. Indirect DNA diagnosis by means of linked restriction fragment length polymorphisms (RFLPs) provides the alternative. Using this method authors identified de novo mutation in a family requiring prenatal diagnosis of hemophilia A. This de novo mutation arose during the spermatogenesis of the proband's father. Attempts to characterize the mutation on the molecular level are presented. (Ref. 15, Fig. 1.).

AB - Hemophilia is caused by wide spectrum of different mutations in the F8C gene which made the direct DNA diagnosis of the diseases not the case of choice. Indirect DNA diagnosis by means of linked restriction fragment length polymorphisms (RFLPs) provides the alternative. Using this method authors identified de novo mutation in a family requiring prenatal diagnosis of hemophilia A. This de novo mutation arose during the spermatogenesis of the proband's father. Attempts to characterize the mutation on the molecular level are presented. (Ref. 15, Fig. 1.).

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Identifikácia de novo mutácie v géne pre faktor FVIII:C v rodine pozadujúcej prenatálnu diagnostiku hemofílie A.

Abstract

ASJC Scopus subject areas

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