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
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 [J].
Cazzola, M ;
Bergamaschi, G ;
Tonon, L ;
Arbustini, E ;
Grasso, M ;
Vercesi, E ;
Barosi, G ;
Bianchi, PE ;
Cairo, G ;
Arosio, P .
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) [J].
GIRELLI, D ;
CORROCHER, R ;
BISCEGLIA, L ;
OLIVIERI, O ;
DEFRANCESCHI, L ;
ZELANTE, L ;
GASPARINI, P .
BLOOD, 1995, 86 (11) :4050-4053
[3]   REGULATING THE FATE OF MESSENGER-RNA - THE CONTROL OF CELLULAR IRON-METABOLISM [J].
KLAUSNER, RD ;
ROUAULT, TA ;
HARFORD, JB .
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 [J].
Levi, S ;
Girelli, D ;
Perrone, F ;
Pasti, M ;
Beaumont, C ;
Corrocher, R ;
Albertini, A ;
Arosio, P .
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 [J].
Martin, ME ;
Fargion, S ;
Brissot, P ;
Pellat, B ;
Beaumont, C .
BLOOD, 1998, 91 (01) :319-323
[6]  
SANTORO C, 1986, NUCLEIC ACIDS RES, V14, P2863, DOI 10.1093/nar/14.7.2863