Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing

被引：6

作者：

Ferbo, Ludovica ^{[1
]}

Manzini, Paola M. ^{[2
]}

Badar, Sadaf ^{[3
]}

Campostrini, Natascia ^{[3
]}

Ferrarini, Alberto ^{[4
]}

Delledonne, Massimo ^{[4
]}

Francisci, Tiziana ^{[2
]}

Tassi, Valter ^{[2
]}

Valfre, Adriano ^{[2
]}

Dall'Omo, Anna M. ^{[2
]}

D'Antico, Sergio ^{[2
]}

Girelli, Domenico ^{[3
]}

Roetto, Antonella ^{[1
]}

De Gobbi, Marco ^{[1
]}

机构：

[1] Univ Turin, Dept Clin & Biol Sci, AOU San Luigi Gonzaga, Turin, Italy

[2] Banca Sangue CPVE, AOU Citta Salute & Sci Torino, Turin, Italy

[3] Univ Verona, Dept Med, Verona, Italy

[4] Univ Verona, Dept Biotechnol, Verona, Italy

来源：

BLOOD TRANSFUSION | 2016年 / 14卷 / 06期

关键词：

haemochromatosis; ferroportin; hepcidin; next generation sequencing; HEREDITARY HEMOCHROMATOSIS; HEPCIDIN CONCENTRATIONS; TFR2; HEMOCHROMATOSIS; SERUM HEPCIDIN; IRON; DIAGNOSIS; DISEASE; HFE;

D O I：

10.2450/2016.0286-15

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

[No abstract available]

引用

页码：531 / 534

页数：4

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