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001-es BibID:	BIBFORM045674
Első szerző:	Góth László (analitikus)
Cím:	Genetic heterogeneity of the 5' uncoding region of the catalase gene in Hungarian acatalasemic and hypocatalasemic subjects / Goth L.
Dátum:	1998
ISSN:	0009-8981
Megjegyzések:	The 5' uncoding region (165 bp), exon 1 (63 bp) and part of intron 1 (20 bp) of the catalase gene was amplified by PCR in acatalasemic (2), hypocatalasemic (19) patients and healthy individuals (10). The single strand conformational polymorphism of PCR products showed a highly polymorphic pattern. This polymorphism was supported by nucleotide sequence analyses yielding eight mutations. They are A to T, C to A and C to T at positions -21, -20, -18 of the 5' flanking region, T to C at positions 4, 44, 49 of the non-coding region and C to T and C to A at positions 12, 27 of exon 1. Of these nucleotide substitutions, the fourth, fifth, seventh and eighth are novel mutations. The mutations 1, 3, 6, 8 were present at least at heterozygous level in all acatalasemics and hypocatalasemics. None of these mutations may be the causal mutation(s) of acatalasemia as each of these nucleotide substitutions were detected in healthy subjects with normal blood catalase activity.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban acatalasemia hypocatalasemia SSCP sequence analyses
Megjelenés:	Clinica Chimica Acta. - 271 : 1 (1998), p. 73-78. -
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
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