Identification of New BMP6 Pro-Peptide Mutations in Patients with Unexplained Iron-Overload

被引：0

作者：

Piubelli, Chiara ^{[1
,2
]}

Castagna, Annalisa ^{[1
,2
]}

Marchi, Giacomo ^{[1
,2
]}

Rizzi, Monica ^{[1
,2
]}

Busti, Fabiana ^{[1
,2
]}

Marchetti, Monia ^{[3
]}

De Gobbi, Marco ^{[4
]}

Roetto, Antonella ^{[4
]}

Xumerle, Luciano ^{[5
]}

Giorgetti, Alejandro ^{[5
]}

Delledonne, Massimo ^{[5
]}

Olivieri, Oliviero ^{[1
,2
]}

Girelli, Domenico ^{[1
,2
]}

机构：

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

[2] Azienda Ospedaliera Univ Integrata Verona, Veneto Region Referral Ctr Iron Disorders, Verona, Italy

[3] ASTI, Osped Cardinal Massaia, Oncol Unit, ASTI, Italy

[4] Univ Turin, Dept Clin & Biol Sci, Orbassano TO, Italy

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

来源：

BLOOD | 2016年 / 128卷 / 22期

关键词：

D O I：

10.1182/blood.V128.22.264.264

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

264

引用

页数：5

共 24 条

[21] MOLECULAR GENETIC TESTING FOR HFE MUTATIONS AS A DIAGNOSTIC AID AND THE FIRST STEP IN IDENTIFYING PATIENTS WITH UNEXPLAINED IRON OVERLOAD: A TEN YEAR EXPERIENCE AT ANTHONY NOLAN/ROYAL FREE HOSPITAL
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[22] Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation
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da Silva, Nathalia Kozikas
Silva Fonseca, Paula Fernanda
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[23] Mutation analysis of the aspartoacylase gene in non-Ashkenazi Jewish patients with Canavan disease: Identification of 6 new mutations.
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de Coo, RFM
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[24] High incidence of the CFTR mutations 3272-26A → G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A→G, E588V, and 1671insTATCA) (vol 6, pg 371, 2007)
Storm, Katrien
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JOURNAL OF CYSTIC FIBROSIS, 2008, 7 (05) : 461 - 461

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