HEREDITARY ERYTHROCYTE PYRUVATE-KINASE DEFICIENCY - MOLECULAR AND FUNCTIONAL STUDIES OF 4 MUTANT PK VARIANTS DETECTED IN SPAIN

被引：14
|
作者：
MARIE, J [1 ]
VIVESCORRONS, JL [1 ]
KAHN, A [1 ]
KERNEMP, B [1 ]
机构：
[1] HOSP CLIN & PROVINCIAL,POST GRAD HEMATOL SCH,BARCELONA,SPAIN
来源：
CLINICA CHIMICA ACTA | 1977年 / 81卷 / 02期
关键词：
D O I：
10.1016/0009-8981(77)90007-9
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：153 / 162
页数：10
相关论文
共 32 条
  • [1] ACTIVITY VARIANTS OF ERYTHROCYTE PYRUVATE-KINASE (PK)
    SATOH, C
    YAMASHITA, A
    KAWAMOTO, C
    ARAKAWA, H
    OMINE, H
    GORIKI, K
    FUJITA, M
    HAMILTON, HB
    JAPANESE JOURNAL OF HUMAN GENETICS, 1981, 26 (02): : 172 - 172
  • [2] 4 NEW PYRUVATE-KINASE (PK) VARIANTS AND A CLASSICAL PK DEFICIENCY
    MIWA, S
    NAKASHIMA, K
    ARIYOSHI, K
    SHINOHARA, K
    ODA, E
    TANAKA, T
    BRITISH JOURNAL OF HAEMATOLOGY, 1975, 29 (01) : 157 - 169
  • [3] STUDIES ON ERYTHROCYTE PYRUVATE-KINASE VARIANTS
    ODA, E
    NAKASHIMA, K
    ARIYOSHI, K
    SHINOHARA, K
    MIWA, S
    JAPANESE JOURNAL OF HUMAN GENETICS, 1975, 20 (01): : 31 - 31
  • [4] ERYTHROCYTE PYRUVATE-KINASE (PK) - THE VARIABLE SIGNIFICANCE OF NUCLEOTIDE SPECIFICITY IN THE CHARACTERIZATION OF MUTANT VARIANTS
    VALENTINE, WN
    PAGLIA, DE
    NAKATANI, M
    BROCKWAY, RA
    AMERICAN JOURNAL OF HEMATOLOGY, 1987, 26 (04) : 353 - 356
  • [5] MOLECULAR MECHANISM OF ERYTHROCYTE PYRUVATE-KINASE DEFICIENCY
    KAHN, A
    MARIE, J
    GALAND, C
    BOIVIN, P
    HUMANGENETIK, 1975, 29 (04): : 271 - 280
  • [6] 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
  • [7] MOLECULAR ABNORMALITY OF ERYTHROCYTE PYRUVATE-KINASE DEFICIENCY IN THE AMISH
    KANNO, H
    BALLAS, SK
    MIWA, S
    FUJII, H
    BOWMAN, HS
    BLOOD, 1994, 83 (08) : 2311 - 2316
  • [8] ERYTHROCYTE PYRUVATE-KINASE DEFICIENCY - CHARACTERIZATION OF A NEW VARIANT (PK AARAU)
    LAKOMEK, M
    WINKLER, H
    SCHARNETZKY, M
    TILLMANN, W
    LAIER, G
    MARTI, HR
    SCHROTER, W
    BLUT, 1984, 48 (03): : 123 - 129
  • [9] MOLECULAR ANOMALIES IN PATIENTS WITH HEREDITARY PYRUVATE-KINASE DEFICIENCY
    KAHN, A
    MARIE, J
    HUMAN HEREDITY, 1977, 27 (03) : 187 - 187
  • [10] SEARCH FOR A RELATIONSHIP BETWEEN MOLECULAR ANOMALIES OF THE MUTANT ERYTHROCYTE PYRUVATE-KINASE VARIANTS AND THEIR PATHOLOGICAL EXPRESSION
    KAHN, A
    MARIE, J
    VIVESCORRONS, JL
    MAIGRET, P
    NAJMAN, A
    HUMAN GENETICS, 1981, 57 (02) : 172 - 175
1234