A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively

被引：14

作者：

Liu, Gang ^{[1
]}

Niu, Shiwen ^{[1
,2
]}

Dong, Ailian ^{[1
,3
]}

Cai, Hao ^{[4
,5
]}

Anderson, Gregory J. ^{[6
]}

Han, Bing ^{[4
,5
]}

Nie, Guangjun ^{[1
]}

机构：

[1] Natl Ctr Nanosci & Technol, CAS Key Lab Biol Effects Nanomat & Nanosafety, Beijing, Peoples R China

[2] Jilin Univ, Coll Pharmaceut Sci, Changchun 130023, Peoples R China

[3] Jilin Univ, Affiliated Hosp 1, Changchun 130023, Peoples R China

[4] Peking Union Med Coll, Beijing 100021, Peoples R China

[5] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Haematol, Beijing 100730, Peoples R China

[6] Queensland Inst Med Res, Iron Metab Lab, Brisbane, Qld 4006, Australia

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2012年 / 158卷 / 01期

关键词：

Novel mutation; SEC23B; HFE2; CDAII; Chinese family;

D O I：

10.1111/j.1365-2141.2012.09102.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：143 / 145

页数：3

共 8 条

[1] Congenital Dyserythropoietic Anemia Type II (CDAII) is Caused by Mutations in the SEC23B Gene
Bianchi, Paola
Fermo, Elisa
Vercellati, Cristina
Boschetti, Carla
Barcellini, Wilma
Iurlo, Alessandra
Marcello, Anna Paola
Righetti, Pier Giorgio
Zanella, Alberto
HUMAN MUTATION, 2009, 30 (09) : 1292 - 1298
[2] Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II
Shanshan Chen
Ziwen Guo
Yongbin Ye
Shanhong Yang
Guinian Huang
International Journal of Hematology, 2021, 114 : 390 - 394
[3] Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II
Chen, Shanshan
Guo, Ziwen
Ye, Yongbin
Yang, Shanhong
Huang, Guinian
INTERNATIONAL JOURNAL OF HEMATOLOGY, 2021, 114 (03) : 390 - 394
[4] New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
Musri, Melina Mara
Venturi, Veronica
Ferrer-Cortes, Xenia
Romero-Cortadellas, Lidia
Hernandez, Gonzalo
Leoz, Pilar
Ricard Andres, Maria Pilar
Morado, Marta
Valle, Maria del Carmen Fernandez
Beneitez Pastor, David
Ortuno Cabrero, Ana
Moreno Gamiz, Maite
Senent Peris, Leonor
Perez-Valencia, Amanda Isabel
Perez-Montero, Santiago
Tornador, Cristian
Sanchez, Mayka
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (12)
[5] Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
Russo, Roberta
Langella, Concetta
Esposito, Maria Rosaria
Gambale, Antonella
Vitiello, Francesco
Vallefuoco, Fara
Ek, Torben
Yang, Elizabeth
Iolascon, Achille
BLOOD CELLS MOLECULES AND DISEASES, 2013, 51 (01) : 17 - 21
[6] Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature
Zheng, Jiajia
Gao, Li
Liu, Hu
Xiao, Peifang
Lu, Jun
Li, Jie
Wu, Shuiyan
Cheng, Shengqin
Bian, Xinni
Du, Zhizhuo
Kong, Lingjun
Hu, Shaoyan
Fan, Junjie
INTERNATIONAL JOURNAL OF HEMATOLOGY, 2024, 119 (02) : 210 - 214
[7] Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship
Iolascon, Achille
Russo, Roberta
Esposito, Maria Rosaria
Asci, Roberta
Piscopo, Carmelo
Perrotta, Silverio
Feneant-Thibault, Madeleine
Garcon, Loic
Delaunay, Jean
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 (05): : 708 - 715
[8] Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia
Koker, Sultan Aydin
Karapinar, Tuba H.
Oymak, Yesim
Bianchi, Paola
Fermo, Elisa
Gozmen, Salih
Vergin, Canan
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2018, 40 (07) : E421 - E423

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