Studiul polimorfismului clinic şi genotipic la pacienţii cu mucoviscidoză din Republica Moldova

Barbova Natalia; Egorov Vladimir

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BARBOVA, Natalia, EGOROV, Vladimir. Studiul polimorfismului clinic şi genotipic la pacienţii cu mucoviscidoză din Republica Moldova. In: Buletinul Academiei de Ştiinţe a Moldovei. Ştiinţe Medicale, 2008, nr. 5(19), pp. 327-330. ISSN 1857-0011.

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Buletinul Academiei de Ştiinţe a Moldovei. Ştiinţe Medicale

Numărul 5(19) / 2008 / ISSN 1857-0011

Studiul polimorfismului clinic şi genotipic la pacienţii cu mucoviscidoză din Republica Moldova

Pag. 327-330

Barbova Natalia, Egorov Vladimir

Disponibil în IBN: 11 decembrie 2013

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We carried out the molecular diagnosis of 78 Cystic Fibrosis patients aged from 2 month to 24 years (32 female and 46 male) and their parents. Were identifi ed the following mutations – F508del – in 57,7%, R334W (ex.7) – în 3,8% and N1303K – în 1,3% of cases. Connection was determined between F508del mutation and the severity of clinical manifestation in CF. It is shown that mutation remain unidentifi ed in 37,2% of cases in RM. Advisability of the improvement of CF molecular diagnosis metods is well – founded in Republic of Moldova.

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