"ARMS;Fabry;metabol.;mutace;PCR/RFLP;prevence;sekvence;X-ALD;X-inakt;X-v\u00E1zan\u00E9"@en . "0"^^ . . "2004-03-23+01:00"^^ . . "Fabry disease and X.-linked adrenoleucodystrophy: mutation analysis of alpha-galactosidase A and ALD-protein genes in the Czech patiens."@en . "DNA-diagnosis in Fabry disease and X-linked adrenoleucodystrophy will enable reliable detection of heterozygous females in famil. and genetic counseling. Mutations in hemizygotes will be analyzed by sequencig,in otther famil. members by PCR/RFLP or ARMSDegree of X-chromosome inactivation in heterozygous females will be correlated with their phenotype."@en . "http://www.isvav.cz/projectDetail.do?rowId=NE5770"^^ . "prevence" . "1"^^ . "sekvence" . . "0"^^ . . "X-inakt" . "ARMS" . "Fabryho choroba a X-v\u00E1zan\u00E1 adrenoleukodystrofie:analysa mutac\u00ED v genech pro alfagalaktosidasu A a ALD-protein u \u010Desk\u00FDch pacient\u016F" . "6"^^ . "Fabry" . "6"^^ . . . "V\u00FDsledkem je detailn\u00ED anal\u00FDza a charakterizace mutac\u00ED, ve v\u011Bt\u0161in\u011B p\u0159\u00EDpad\u016F nov\u00FDch, u v\u0161ech posti\u017Een\u00FDch rodin v \u010CR s X-v\u00E1zanou adrenoleukodystrofi\u00ED (X-ALD) a Fabryho chorobou (X-v\u00E1zan\u00E1 sfingolipidosa). Nov\u00E1 diagnostick\u00E1 metoda, kter\u00E1 umo\u017Enuje"@cs . . "mutace" . "metabol." . . . . . "NE5770" . . "PCR/RFLP" . . . . . "X-ALD" . "Dna diagnostika Fabryho nemoci X-v\u00E1zan\u00E9 adrenoleukodystrofie umo\u017En\u00ED spolehliv\u00E9 ur\u010Den\u00ED heterozygotek v rodin\u00E1ch a c\u00EDlen\u00E9 genetick\u00E9 poradenstv\u00ED. Mutace budou u hemizygot\u016F ur\u010Deny sekvenov\u00E1n\u00EDm, u \u010Dlen\u016F rodiny PCR/RFLP nebo ARMS technikami. M\u00EDra inaktivace X-chromozomu u p\u0159ena\u0161e\u010Dek bude korelov\u00E1na s jejich fenotypem." .