Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family | Haematologica

Rivard; C Lanzara; D Grimard; M Carella; H Simard; R Ficarella

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Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family | Haematologica

机译：在法国-加拿大大家庭中，由于FERROPORTIN 1基因（SLC11A3）中发生新的错义突变，导致常染色体显性网状内皮铁超载（HFE 4型）|血液学

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来源
《Haematologica》 |2003年第7期|共3页
作者
Rivard; C Lanzara; D Grimard; M Carella; H Simard; R Ficarella;
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中图分类血液及淋巴系疾病;
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1. The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients | Haematologica [J] . M Politou, V Kalotychou, M Pissia, Haematologica . 2004,第4期

机译：HFE基因和SLC11A3基因突变对希腊地中海贫血中度贫血和β/β贫血患者铁超负荷的影响|血液学
2. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. [J] . Jouanolle AM, Douabin Gicquel V, Halimi C, Journal of Hepatology: The Journal of the European Association for the Study of the Liver . 2003,第2期

机译：铁转运蛋白1基因的新突变与常染色体显性铁超载有关。
3. Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload | Haematologica [J] . S Majore, F Milano, F Binni, Haematologica . 2006,第8aSuppl期

机译：TFR2基因的纯合子p.M172K突变在意大利家庭中发生，该家庭患有3型遗传性血色素沉着症和铁的过载血液学
4. Investigating the pathogenicity of mutations in two ubiquitously expressed housekeeping genes that cause autosomal dominant retinitis pigmentosa. [D] . Spellicy, Catherine Jean. 2009

机译：调查导致常染色体显性遗传性视网膜色素变性的两个普遍表达的管家基因突变的致病性。
5. Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene [O] . Giuliana Montosi, Adriana Donovan, Angela Totaro, 2001

机译：常染色体显性血色素沉着症与铁转运蛋白（SLC11A3）基因突变相关
6. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3) [O] . Thorne Kym 2002

机译：常染色体显性遗传性网状内皮细胞铁超负荷与铁转运蛋白1基因（sLC11a3）中的3碱基对缺失相关

Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family | Haematologica

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