Hematologically important mutations: Red cell pyruvate kinase (third update)

被引：32

作者：

Bianchi, P ^{[1
]}

Zanella, A ^{[1
]}

机构：

[1] Osped Maggiore Milano, Div Ematol, IRCCS, I-20122 Milan, Italy

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2000年 / 26卷 / 01期

关键词：

D O I：

10.1006/bcmd.2000.0276

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

[No abstract available]

引用

页码：47 / 53

页数：7

共 50 条

[1]

ANALYSIS OF PYRUVATE KINASE-DEFICIENCY MUTATIONS THAT PRODUCE NONSPHEROCYTIC HEMOLYTIC-ANEMIA [J].

BARONCIANI, L ;

BEUTLER, E .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (09) :4324-4327

[2]

MOLECULAR STUDY OF PYRUVATE-KINASE DEFICIENT PATIENTS WITH HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA [J].

BARONCIANI, L ;

BEUTLER, E .

JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (04) :1702-1709

[3]

STUDY OF THE MOLECULAR DEFECTS IN PYRUVATE-KINASE DEFICIENT PATIENTS AFFECTED BY NONSPHEROCYTIC HEMOLYTIC-ANEMIA [J].

BARONCIANI, L ;

MAGALHAES, LQ ;

MAHONEY, DH ;

WESTWOOD, B ;

ADEKILE, AD ;

LAPPIN, TRJ ;

BEUTLER, E .

BLOOD CELLS MOLECULES AND DISEASES, 1995, 21 (01) :49-55

[4]

BARONCIANI L, 1995, J INVEST MED, V43, P341

[5]

Beutler E, 1997, HUM MUTAT, V9, P282, DOI 10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.3.CO

[6]

2-0

[7]

Beutler E, 1996, HUM MUTAT, V7, P1

[8]

BEUTLER E, IN PRESS BLOOD

[9]

Bianchi P., 1988, BLOOD S, V92, p3b

[10]

A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an α2 globin gene variant (Hb Conakry) [J].

Cohen-Solal, M ;

Préhu, C ;

Wajcman, H ;

Poyart, C ;

Bardakdjian-Michau, J ;

Kister, J ;

Promé, D ;

Valentin, C ;

Bachir, D ;

Galactéros, F .

BRITISH JOURNAL OF HAEMATOLOGY, 1998, 103 (04) :950-956

← 1 2 3 4 5 →