IDENTICAL POINT MUTATIONS OF THE R-TYPE PYRUVATE-KINASE (PK) CDNA FOUND IN UNRELATED PK VARIANTS ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA

被引：55

作者：

KANNO, H

FUJII, H

HIRONO, A

OMINE, M

MIWA, S

机构：

[1] SHOWA UNIV,FUJIGAOKA HOSP,DEPT MED,TOKYO 142,JAPAN

[2] TOKYO WOMENS MED COLL,DEPT BLOOD TRANSFUS MED,TOKYO 162,JAPAN

来源：

BLOOD | 1992年 / 79卷 / 05期

关键词：

D O I：

10.1182/blood.V79.5.1347.bloodjournal7951347

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1347 / 1350

页数：4

共 13 条

[1] ANALYSIS OF PYRUVATE-KINASE (PK) MUTATIONS THAT PRODUCE NONSPHEROCYTIC HEMOLYTIC-ANEMIA
BARONCIANI, L
BEUTLER, E
BLOOD, 1993, 82 (10) : A97 - A97
[2] CITATION CLASSIC - PYRUVATE-KINASE (PK) DEFICIENCY HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA
TANAKA, KR
CURRENT CONTENTS/CLINICAL PRACTICE, 1982, (02): : 20 - 20
[3] CDNA CLONING OF HUMAN R-TYPE PYRUVATE-KINASE AND IDENTIFICATION OF A SINGLE AMINO-ACID SUBSTITUTION (THR384-]MET) AFFECTING ENZYMATIC STABILITY IN A PYRUVATE-KINASE VARIANT (PK TOKYO) ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA
KANNO, H
FUJII, H
HIRONO, A
MIWA, S
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (18) : 8218 - 8221
[4] Monoallelic expression of pyruvate kinase (PK) gene in the two PK variants associated with hereditary hemolytic anemia
Kanno, H
Fujii, H
Miwa, S
BLOOD, 1995, 86 (10) : 521 - 521
[5] MUTATIONS IN THE R-TYPE PYRUVATE-KINASE GENE AND ALTERED ENZYME-KINETIC PROPERTIES IN PATIENTS WITH HEMOLYTIC-ANEMIA DUE TO PYRUVATE-KINASE DEFICIENCY
LAKOMEK, M
HUPPKE, P
NEUBAUER, B
PEKRUN, A
WINKLER, H
SCHROTER, W
ANNALS OF HEMATOLOGY, 1994, 69 (05) : 253 - 260
[6] HEREDITARY HEMOLYTIC-ANEMIA CAUSED BY DIVERSE POINT MUTATIONS OF PYRUVATE-KINASE GENE FOUND IN JAPAN AND HONG-KONG
KANNO, H
WEI, DC
CHAN, LC
MIZOGUCHI, H
ANDO, M
NAKAHATA, T
NARISAWA, K
FUJII, H
MIWA, S
BLOOD, 1994, 84 (10) : 3505 - 3509
[7] POINT MUTATIONS IN THE L-TYPE PYRUVATE-KINASE GENE OF 2 CHILDREN WITH HEMOLYTIC-ANEMIA CAUSED BY PYRUVATE-KINASE DEFICIENCY
NEUBAUER, B
LAKOMEK, M
WINKLER, H
PARKE, M
HOFFERBERT, S
SCHROTER, W
BLOOD, 1991, 77 (09) : 1871 - 1875
[8] HEREDITARY ERYTHROCYTE PYRUVATE-KINASE (PK) DEFICIENCY AND CHRONIC HEMOLYTIC-ANEMIA - CLINICAL, GENETIC AND MOLECULAR STUDIES IN 6 NEW SPANISH PATIENTS
VIVESCORRONS, JL
MARIE, J
PUJADES, MA
KAHN, A
HUMAN GENETICS, 1980, 53 (03) : 401 - 408
[9] HEMOLYTIC-ANEMIA IN BASENJI DOGS .2. PARTIAL DEFICIENCY OF ERYTHROCYTE PYRUVATE-KINASE (PK - EC 2.7.1.40) IN HETEROZYGOUS CARRIERS
ANDRESEN, E
ANIMAL BLOOD GROUPS AND BIOCHEMICAL GENETICS, 1977, 8 (03): : 149 - 156
[10] LOW SUBSTRATE AFFINITY OF PYRUVATE-KINASE VARIANT (PK-SAPPORO) CAUSED BY A SINGLE AMINO-ACID SUBSTITUTION (426-ARG -] GLN) ASSOCIATED WITH HEREDITARY HEMOLYTIC-ANEMIA
KANNO, H
FUJII, H
MIWA, S
BLOOD, 1993, 81 (09) : 2439 - 2441

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