Acquired erythropoietic protoporphyria

被引：9

作者：

Blagojevic, Daniel ^{[1
,5
]}

Schenk, Thomas ^{[4
]}

Haas, Oskar ^{[3
]}

Zierhofer, Brigitte ^{[5
]}

Konnaris, Christophoros ^{[2
]}

Trautinger, Franz ^{[5
]}

机构：

[1] Landesklinikum St Poelten, Dept Dermatol & Venereol, A-3100 St Polten, Austria

[2] Med Univ Vienna, Dept Gynecol & Obstet, Vienna, Austria

[3] Ambulatorium Medgen, Vienna, Austria

[4] Landesklinikum St Poelten, Dept Internal Med 1, A-3100 St Polten, Austria

[5] Landesklinikum St Poelten, Karl Landsteiner Inst Dermatol Res, A-3100 St Polten, Austria

来源：

ANNALS OF HEMATOLOGY | 2010年 / 89卷 / 07期

关键词：

FERROCHELATASE GENE;

D O I：

10.1007/s00277-009-0859-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：743 / 744

页数：2

共 5 条

[1] Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells [J].

Aplin, C ;

Whatley, SD ;

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Singer, C ;

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Elder, GH .

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[2]

BICKERS DR, 2008, DERMATOLOGY GEN MED, P1228

[3]

BOTTOMLEY SS, 1988, SEMIN HEMATOL, V25, P282

[4] A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria [J].

Di Pierro, E ;

Cappellini, MD ;

Mazzucchelli, R ;

Moriondo, V ;

Mologni, D ;

Poma, BZ ;

Riva, A .

EXPERIMENTAL HEMATOLOGY, 2005, 33 (05) :584-591

[5] Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria [J].

Rüfenacht, UB ;

Gouya, L ;

Schneider-Yin, X ;

Puy, H ;

Schäfer, BW ;

Aquaron, R ;

Nordmann, Y ;

Minder, EI ;

Deybach, JC .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (06) :1341-1352

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