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Nasledstvennaya Motorno-sensornaya Neyropatiya 1 X Tipa: Kliniko-geneticheskiy Analiz Inna Valentinovna Sharkova Russian edition
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Nasledstvennaya Motorno-sensornaya Neyropatiya 1 X Tipa: Kliniko-geneticheskiy Analiz
Inna Valentinovna Sharkova
Rabota posvyashchena aktual'noy probleme klinicheskoy genetiki - sovershenstvovaniyu diagnostiki i profilaktiki nasledstvennoy motorno-sensornoy neyropatii 1 Kh tipa (NMSN 1 Kh), kotoraya yavlyaetsya naibolee rasprostranennoy formoy nasledstvennykh demieliniziruyushchikh polineyropatiy i sostavlyaet 20% ot vsekh geneticheskikh variantov etoy gruppy bolezney. Provedennyy analiz osobennostey klinicheskikh proyavleniy NMSN 1 Kh pri nalichii mutatsiy v gene GJB1, narushayushchikh funktsionirovanie vos'mi domenov belka konneksina 32, pozvolil sdelat' vyvod ob ikh razlichnoy funktsional'noy znachimosti i prognozirovat' tyazhest' techeniya zabolevaniya u bol'nykh v zavisimosti ot lokalizatsii mutatsiy. Izuchenie kliniko-geneticheskikh kharakteristik 104 bol'nykh iz Rossii s NMSN 1 Kh tipa pozvolilo prosledit' dinamiku formirovaniya patologicheskogo simptomokompleksa i opredelit' spektr simptomov, kharakternykh dlya razlichnykh stadiy patologicheskogo protsessa. Na osnovanii analiza klinicheskikh proyavleniy NMSN 1 Kh tipa u bol'nykh muzhskogo i zhenskogo pola vyyavleny gendernye osobennosti techeniya zabolevaniya.
| Media | Books Paperback Book (Book with soft cover and glued back) |
| Released | November 30, 2012 |
| ISBN13 | 9783659300677 |
| Publishers | LAP LAMBERT Academic Publishing |
| Pages | 132 |
| Dimensions | 150 × 8 × 225 mm · 204 g |
| Language | Russian |