Hematologically important mutations: X-linked chronic granulomatous disease

被引：16

作者：

Cross, AR

Curnutte, JT

Rae, J

Heyworth, PG

机构：

[1] SCRIPPS RES INST, DEPT MOLEC & EXPTL MED, LA JOLLA, CA 92037 USA

[2] GENENTECH INC, DEPT IMMUNOL, S SAN FRANCISCO, CA 94080 USA

来源：

BLOOD CELLS MOLECULES AND DISEASES | 1996年 / 22卷 / 08期

关键词：

chronic granulomatous disease; mutation; NADPH oxidase; phagocyte; X-linked disease; gp91-phox;

D O I：

10.1006/bcmd.1996.0013

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：90 / 95

页数：6

共 21 条

[1] A 15-BASE PAIR (BP) PALINDROMIC INSERTION ASSOCIATED WITH A 3-BP DELETION IN EXON-10 OF THE GP91-PHOX GENE, DETECTED IN 2 PATIENTS WITH X-LINKED CHRONIC GRANULOMATOUS-DISEASE [J].

ARIGA, T ;

SAKIYAMA, Y ;

MATSUMOTO, S .

HUMAN GENETICS, 1995, 96 (01) :6-8

[2]

ARIGA T, 1994, HUM GENET, V94, P441

[3] A NEWLY RECOGNIZED POINT MUTATION IN THE CYTOCHROME-B(558) HEAVY-CHAIN GENE REPLACING ALANINE(57) BY GLUTAMIC-ACID, IN A PATIENT WITH CYTOCHROME-B POSITIVE X-LINKED CHRONIC GRANULOMATOUS-DISEASE [J].

ARIGA, T ;

SAKIYAMA, Y ;

TOMIZAWA, K ;

IMAJOHOHMI, S ;

KANEGASAKI, S ;

MATSUMOTO, S .

EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (06) :469-472

[4]

Ariga Tadashi, 1994, European Journal of Haematology, V52, P99

[5]

BOLSCHER BGJM, 1991, BLOOD, V77, P2482

[6] MOLECULAR ANALYSIS IN 3 CASES OF X91(-) VARIANT CHRONIC GRANULOMATOUS-DISEASE [J].

BUGHANIM, HN ;

SEGAL, AW ;

KEEP, NH ;

CASIMIR, CM .

BLOOD, 1995, 86 (09) :3575-3582

[7]

CROSS AR, 1995, J BIOL CHEM, V270, P17056

[8] A VARIANT X-LINKED CHRONIC GRANULOMATOUS-DISEASE PATIENT (X91(+)) WITH PARTIALLY FUNCTIONAL CYTOCHROME-B [J].

CROSS, AR ;

HEYWORTH, PG ;

RAE, J ;

CURNUTTE, JT .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (14) :8194-8200

[9]

Curnutte John T., 1995, P792

[10] STUDYING X-INACTIVATION [J].

CURNUTTE, JT ;

HOPKINS, PJ ;

KUHL, W ;

BEUTLER, E .

LANCET, 1992, 339 (8795) :749-749

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