A LIVER-TYPE MUTATION IN A CASE OF PRONOUNCED ERYTHROCYTE PHOSPHOFRUCTOKINASE DEFICIENCY WITHOUT CLINICAL EXPRESSION

被引：7

作者：

ETIEMBLE, J

SIMEON, J

BUC, HA

PICAT, C

BOULARD, M

BOIVIN, P

机构：

[1] CHU NECKER,INSERM,U75,UNITE RECH ENZYMOL MED,F-75730 PARIS 15,FRANCE

[2] CHU MILETERIE,RECH BIOCHIM HEMATOL LAB,F-86021 POITIERS,FRANCE

来源：

BIOCHIMICA ET BIOPHYSICA ACTA | 1983年 / 759卷 / 03期

关键词：

D O I：

10.1016/0304-4165(83)90318-5

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：236 / 242

页数：7

共 35 条

[1] MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY - 2 CASES WITH UNUSUAL POLYSACCHARIDE ACCUMULATION AND IMMUNOLOGICALLY ACTIVE ENZYME PROTEIN [J].

AGAMANOLIS, DP ;

ASKARI, AD ;

DIMAURO, S ;

HAYS, A ;

KUMAR, K ;

LIPTON, M ;

RAYNOR, A .

MUSCLE & NERVE, 1980, 3 (06) :456-467

[2]

BEUTLER E, 1975, MANUAL BIOCH METHODS, P42

[3]

BOULARD MR, 1974, NEW ENGL J MED, V291, P978

[4]

BOYUM A, 1974, TISSUE ANTIGENS, V4, P269

[5]

BUC HA, 1980, BIOCHIM BIOPHYS ACTA, V628, P136, DOI 10.1016/0304-4165(80)90360-8

[6]

CARTIER P, 1967, ANN BIOL CLIN-PARIS, V25, P791

[7]

DUPOND JL, 1977, NOUV PRESSE MED, V6, P2665

[8] HEREDITARY HEMOLYTIC-ANEMIA WITH ERYTHROCYTE PHOSPHOFRUCTOKINASE DEFICIENCY - STUDIES OF SOME PROPERTIES OF ERYTHROCYTE AND MUSCLE ENZYME [J].

ETIEMBLE, J ;

KAHN, A ;

BOIVIN, P ;

BERNARD, JF ;

GOUDEMAND, M .

HUMAN GENETICS, 1976, 31 (01) :83-91

[9] INHERITED ERYTHROCYTE PHOSPHOFRUCTOKINASE DEFICIENCY - MOLECULAR MECHANISM [J].

ETIEMBLE, J ;

PICAT, C ;

SIMEON, J ;

BLATRIX, C ;

BOIVIN, P .

HUMAN GENETICS, 1980, 55 (03) :383-390

[10] ELECTROPHORETIC ANALYSIS OF MAJOR POLYPEPTIDES OF HUMAN ERYTHROCYTE MEMBRANE [J].

FAIRBANKS, G ;

STECK, TL ;

WALLACH, DFH .

BIOCHEMISTRY, 1971, 10 (13) :2606-+

← 1 2 3 4 →