Description of a new mutation in the L-ferritin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family

被引：34

作者：

Balas, A ^{[1
]}

Aviles, MJ

Garcia-Sanchez, F

Vicario, JL

Cervera, A

机构：

[1] Reg Transfus Ctr, Histocompatibil & Mol Biol Lab, Madrid, Spain

[2] Mostoles Gen Hosp, Dept Paediat, Madrid, Spain

来源：

BLOOD | 1999年 / 93卷 / 11期

关键词：

D O I：

10.1182/blood.V93.11.4020

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

收藏

页码：4020 / 4021

页数：2

相关论文

共 6 条

[1] Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA
Cazzola, M
Bergamaschi, G
Tonon, L
Arbustini, E
Grasso, M
Vercesi, E
Barosi, G
Bianchi, PE
Cairo, G
Arosio, P
[J]. BLOOD, 1997, 90 (02) : 814 - 821
[2] MOLECULAR-BASIS FOR THE RECENTLY DESCRIBED HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME - A MUTATION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE (THE VERONA MUTATION)
GIRELLI, D
CORROCHER, R
BISCEGLIA, L
OLIVIERI, O
DEFRANCESCHI, L
ZELANTE, L
GASPARINI, P
[J]. BLOOD, 1995, 86 (11) : 4050 - 4053
[3] REGULATING THE FATE OF MESSENGER-RNA - THE CONTROL OF CELLULAR IRON-METABOLISM
KLAUSNER, RD
ROUAULT, TA
HARFORD, JB
[J]. CELL, 1993, 72 (01) : 19 - 28
[4] Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome
Levi, S
Girelli, D
Perrone, F
Pasti, M
Beaumont, C
Corrocher, R
Albertini, A
Arosio, P
[J]. BLOOD, 1998, 91 (11) : 4180 - 4187
[5] A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome
Martin, ME
Fargion, S
Brissot, P
Pellat, B
Beaumont, C
[J]. BLOOD, 1998, 91 (01) : 319 - 323
[6] SANTORO C, 1986, NUCLEIC ACIDS RES, V14, P2863, DOI 10.1093/nar/14.7.2863