The molecular basis of disorders of red cell enzymes

被引：22

作者：

McMullin, MF ^{[1
]}

机构：

[1] Queens Univ Belfast, Royal Victoria Hosp, Dept Haematol, Inst Clin Sci, Belfast BT12 6BA, Antrim, North Ireland

来源：

JOURNAL OF CLINICAL PATHOLOGY | 1999年 / 52卷 / 04期

关键词：

D O I：

10.1136/jcp.52.4.241

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

[No abstract available]

引用

页码：241 / 244

页数：4

共 20 条

[1] HEREDITARY RED-CELL ENZYMOPATHIES [J].

ARYA, R ;

LAYTON, DM ;

BELLINGHAM, AJ .

BLOOD REVIEWS, 1995, 9 (03) :165-175

[2]

Arya R, 1997, HUM MUTAT, V10, P290

[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] Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia [J].

Baronciani, L ;

Zanella, A ;

Bianchi, P ;

Zappa, M ;

Alfinito, F ;

Iolascon, A ;

Tannoia, N ;

Beutler, E ;

Sirchia, G .

BLOOD, 1996, 88 (06) :2306-2310

[5] G6PD: Population genetics and clinical manifestations [J].

Beutler, E .

BLOOD REVIEWS, 1996, 10 (01) :45-52

[6] HEXOKINASE MUTATIONS THAT PRODUCE NONSPHEROCYTIC HEMOLYTIC-ANEMIA [J].

BIANCHI, M ;

MAGNANI, M .

BLOOD CELLS MOLECULES AND DISEASES, 1995, 21 (01) :2-8

[7] GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY [J].

CHANG, JG ;

LIU, TC .

CRITICAL REVIEWS IN ONCOLOGY/HEMATOLOGY, 1995, 20 (1-2) :1-7

[8]

Hirono A, 1996, BLOOD, V87, P2071

[9] Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency [J].

Kanno, H ;

Fujii, H ;

Wei, DC ;

Chan, LC ;

Hirono, A ;

Tsukimoto, I ;

Miwa, S .

BLOOD, 1997, 89 (11) :4213-4218

[10] Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia [J].

Kanno, H ;

Fujii, H ;

Hirono, A ;

Ishida, Y ;

Ohga, S ;

Fukumoto, Y ;

Matsuzawa, K ;

Ogawa, S ;

Miwa, S .

BLOOD, 1996, 88 (06) :2321-2325

← 1 2 →