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- W2025730963 endingPage "202" @default.
- W2025730963 startingPage "192" @default.
- W2025730963 abstract "A hemocromatose hereditária (HH) é a mais comum doença autossômica em caucasianos e caracteriza-se pelo aumento da absorção intestinal de ferro, o qual resulta em acúmulo progressivo de ferro no organismo. A classificação da HH é realizada de acordo com a alteração genética encontrada, sendo os casos divididos em tipos 1, 2A, 2B, 3 e 4, quando a sobrecarga de ferro for associada aos genes HFE, HJV, HAMP, TFR2 e SLC40A1, respectivamente. Não existem estudos brasileiros que avaliaram a presença de mutações em genes relacionados à fisiopatologia da HH (genes HJV, HAMP, TFR2 e SLC40A1), além da pesquisa das três mutações no gene HFE (C282Y, H63D e S65C). Porém, está descrito, nos estudos realizados no Brasil, que alguns pacientes com sobrecarga de ferro primária não são portadores da HH tipo 1 (associada ao gene HFE). Portanto, é de suma importância a identificação das características genéticas dessa população, uma vez que outras mutações nos genes HJV, HAMP, TFR2 e SLC40A1 podem estar associadas à fisiopatologia da doença, podendo haver interações entre os genes alterados, de forma que possa auxiliar no entendimento da fisiopatologia da HH em pacientes brasileiros." @default.
- W2025730963 created "2016-06-24" @default.
- W2025730963 creator A5006536538 @default.
- W2025730963 creator A5008660733 @default.
- W2025730963 creator A5065199963 @default.
- W2025730963 creator A5072339309 @default.
- W2025730963 date "2009-01-01" @default.
- W2025730963 modified "2023-09-25" @default.
- W2025730963 title "Alterações moleculares associadas à hemocromatose hereditária" @default.
- W2025730963 cites W1522974031 @default.
- W2025730963 cites W1525515545 @default.
- W2025730963 cites W153886182 @default.
- W2025730963 cites W1562221129 @default.
- W2025730963 cites W1618001767 @default.
- W2025730963 cites W163177553 @default.
- W2025730963 cites W1862431731 @default.
- W2025730963 cites W1965708122 @default.
- W2025730963 cites W1968020075 @default.
- W2025730963 cites W1968966906 @default.
- W2025730963 cites W1980042430 @default.
- W2025730963 cites W1980310397 @default.
- W2025730963 cites W1980769878 @default.
- W2025730963 cites W1980861782 @default.
- W2025730963 cites W1982391510 @default.
- W2025730963 cites W1999149952 @default.
- W2025730963 cites W1999697457 @default.
- W2025730963 cites W2002605005 @default.
- W2025730963 cites W2002986792 @default.
- W2025730963 cites W2003255834 @default.
- W2025730963 cites W2004238692 @default.
- W2025730963 cites W2005384029 @default.
- W2025730963 cites W2008489702 @default.
- W2025730963 cites W2011166445 @default.
- W2025730963 cites W2014577622 @default.
- W2025730963 cites W2018110492 @default.
- W2025730963 cites W2018391935 @default.
- W2025730963 cites W2020885636 @default.
- W2025730963 cites W2022630224 @default.
- W2025730963 cites W2025063713 @default.
- W2025730963 cites W2025158365 @default.
- W2025730963 cites W2026187531 @default.
- W2025730963 cites W2031466191 @default.
- W2025730963 cites W2038231266 @default.
- W2025730963 cites W2038944724 @default.
- W2025730963 cites W2039796988 @default.
- W2025730963 cites W2041715899 @default.
- W2025730963 cites W2044142025 @default.
- W2025730963 cites W2046789817 @default.
- W2025730963 cites W2047696660 @default.
- W2025730963 cites W2048706423 @default.
- W2025730963 cites W2049159145 @default.
- W2025730963 cites W2053757489 @default.
- W2025730963 cites W2056282179 @default.
- W2025730963 cites W2056818500 @default.
- W2025730963 cites W2058283594 @default.
- W2025730963 cites W2062803960 @default.
- W2025730963 cites W2064837088 @default.
- W2025730963 cites W2066497688 @default.
- W2025730963 cites W2069403704 @default.
- W2025730963 cites W2069774708 @default.
- W2025730963 cites W2070252654 @default.
- W2025730963 cites W2070289707 @default.
- W2025730963 cites W2079462639 @default.
- W2025730963 cites W2083204250 @default.
- W2025730963 cites W2083477710 @default.
- W2025730963 cites W2086823635 @default.
- W2025730963 cites W2088065444 @default.
- W2025730963 cites W2088201327 @default.
- W2025730963 cites W2088903681 @default.
- W2025730963 cites W2088927571 @default.
- W2025730963 cites W2089806543 @default.
- W2025730963 cites W2091028002 @default.
- W2025730963 cites W2093490113 @default.
- W2025730963 cites W2098058233 @default.
- W2025730963 cites W2104000070 @default.
- W2025730963 cites W2105923433 @default.
- W2025730963 cites W2106079400 @default.
- W2025730963 cites W2114015514 @default.
- W2025730963 cites W2116064842 @default.
- W2025730963 cites W2126989415 @default.
- W2025730963 cites W2128335522 @default.
- W2025730963 cites W2132579069 @default.
- W2025730963 cites W2133268214 @default.
- W2025730963 cites W2133811201 @default.
- W2025730963 cites W2137615019 @default.
- W2025730963 cites W2141275282 @default.
- W2025730963 cites W2141937988 @default.
- W2025730963 cites W2141972986 @default.
- W2025730963 cites W2142176357 @default.
- W2025730963 cites W2143716524 @default.
- W2025730963 cites W2144648585 @default.
- W2025730963 cites W2146532311 @default.
- W2025730963 cites W2148362837 @default.
- W2025730963 cites W2149406240 @default.
- W2025730963 cites W2150352214 @default.
- W2025730963 cites W2157208233 @default.
- W2025730963 cites W2161998284 @default.
- W2025730963 cites W2168051647 @default.