New TFR2 mutations in young Italian patients with hemochromatosis

被引：27

作者：

Biasiotto, Giorgio ^{[1
]}

Camaschella, Clara ^{[2
]}

Forni, Gian Luca ^{[3
]}

Polotti, Anna ^{[1
]}

Zecchina, Gabriella ^{[4
]}

Arosio, Paolo ^{[1
]}

机构：

[1] Univ Brescia, AO Spedali Civili Brescia, Dipartimento Materno Infantile & Tecnol Biomed, Brescia, Italy

[2] Univ Vita Salute San Raffaele, Milan, Italy

[3] Osped Galliera, Ctr Microcitemia & Anemie Congenite, Genoa, Italy

[4] Univ Torino, Dipartimento Sci Clin & Biol, Turin, Italy

来源：

HAEMATOLOGICA | 2008年 / 93卷 / 02期

关键词：

hemochromatosis; iron overload; DHPLC;

D O I：

10.3324/haematol.11942

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mutation (His33Asn) and a polymorphism were found in a group of 50 controls.

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收藏

页码：309 / 310

页数：2

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