Hereditary hyperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element

被引：49

作者：

Mumford, AD ^{[1
]}

Vulliamy, T

Lindsay, J

Watson, A

机构：

[1] Univ London Imperial Coll Sci Technol & Med, Sch Med, Hammersmith Hosp, London, England

[2] Stoke Mandeville Hosp, NHS Trust, Aylesbury HP21 8AL, Bucks, England

来源：

BLOOD | 1998年 / 91卷 / 01期

关键词：

D O I：

10.1182/blood.V91.1.367.367_367_368

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：367 / 368

页数：2

共 4 条

[1]

BETTANY AJE, 1992, J BIOL CHEM, V267, P16531

[2] 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

[3] THE INTERACTION BETWEEN THE IRON-RESPONSIVE ELEMENT-BINDING PROTEIN AND ITS COGNATE RNA IS HIGHLY DEPENDENT UPON BOTH RNA SEQUENCE AND STRUCTURE [J].

JAFFREY, SR ;

HAILE, DJ ;

KLAUSNER, RD ;

HARFORD, JB .

NUCLEIC ACIDS RESEARCH, 1993, 21 (19) :4627-4631

[4] STRUCTURAL REQUIREMENTS OF IRON-RESPONSIVE ELEMENTS FOR BINDING OF THE PROTEIN INVOLVED IN BOTH TRANSFERRIN RECEPTOR AND FERRITIN MESSENGER-RNA POSTTRANSCRIPTIONAL REGULATION [J].

LEIBOLD, EA ;

LAUDANO, A ;

YU, Y .

NUCLEIC ACIDS RESEARCH, 1990, 18 (07) :1819-1824

← 1 →