{"product_id":"molekulqrnoe-issledowanie-gena-ar-u-pacientow-s-ais-von-ben-nasef-imen","title":"Molekulqrnoe issledowanie gena AR u pacientow s AIS","description":"\u003cp\u003eSindrom nechuwstwitel'nosti k androgenam (AIS) qwlqetsq rezul'tatom disfunkcii receptora androgenow, wyzywaq deficit dejstwiq ätih gormonow w organah-mishenqh. Mutacii w gene AR, kotoryj kodiruet ätot receptor, wyzywaüt disfunkciü androgennogo receptora razlichnoj stepeni, kotoraq wposledstwii wyrazhaetsq kak nesootwetstwie mezhdu fenotipom i genotipom. Sindrom nechuwstwitel'nosti k androgenam - naibolee chastaq ätiologiq muzhskogo psewdogermafroditizma. Cel' dannoj raboty - poisk molekulqrnyh anomalij gena AR u 12 tunisskih pacientow s ISN i izuchenie u nih kliniko-geneticheskoj korrelqcii. My iskali mutacii w gene AR metodom prqmogo sekwenirowaniq iz produktow PCR. Polnoe opredelenie genotipa okazalos' wozmozhnym u 5 iz 12 obsledowannyh pacientow. Sekwenirowanie pozwolilo identificirowat' dwe nowye mutacii, ne opisannye w literature, a takzhe tri uzhe opisannye mutacii.\u003c\/p\u003e\u003cdiv class=\"aw-variant-hidden-subtitle-div\" id=\"aw-variant-subtitle-9786203635959\"\u003e\u003ch3\u003e\u003c\/h3\u003e\u003c\/div\u003e","brand":"Autorenwelt Shop","offers":[{"title":"Softcover - 9786203635959","offer_id":40173190348893,"sku":"9786203635959","price":39.9,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0940\/0622\/files\/808f566d-854e-4b69-a73b-dd69eb97501d.png?v=1758087960","url":"https:\/\/shop.autorenwelt.de\/en\/products\/molekulqrnoe-issledowanie-gena-ar-u-pacientow-s-ais-von-ben-nasef-imen","provider":"Autorenwelt Shop","version":"1.0","type":"link"}