Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene

被引：52

作者：

Cybulski, C. ^{[1
,2
]}

Krzystolik, K. ^{[1
,3
]}

Murgia, A. ^{[4
]}

Gorski, B. ^{[1
]}

Debniak, T. ^{[1
]}

Jakubowska, A. ^{[1
]}

Martella, M. ^{[4
]}

Kurzawski, G. ^{[1
]}

Prost, M. ^{[5
]}

Kojder, I. ^{[6
]}

Limon, J. ^{[7
]}

Nowacki, P. ^{[8
]}

Sagan, L. ^{[6
]}

Bialas, B. ^{[9
]}

Kaluza, J. ^{[10
]}

Zdunek, M. ^{[11
]}

Omulecka, A. ^{[12
]}

Jaskolski, D. ^{[13
]}

Kostyk, E. ^{[14
]}

Koraszewska-Matuszewska, B. ^{[15
]}

Haus, O. ^{[16
]}

Janiszewska, H. ^{[16
]}

Pecold, K. ^{[17
]}

Starzycka, M. ^{[18
]}

Slomski, R. ^{[19
]}

Cwirko, M. ^{[20
]}

Sikorski, A. ^{[21
]}

Gliniewicz, B. ^{[21
]}

Cyrylowski, L. ^{[22
]}

Fiszer-Maliszewska, L. ^{[23
]}

Gronwald, J. ^{[1
]}

Toloczko-Grabarek, A. ^{[1
]}

Zajaczek, S. ^{[1
]}

Lubinski, J. ^{[1
]}

机构：

[1] Pomeranian Acad Med, Dept Genet & Pathol, PL-70115 Szczecin, Poland

[2] Pomeranian Acad Med, Dept Pediat 1, Szczecibiaan, Poland

[3] Pomeranian Acad Med, Dept Ophthalmol 1, PL-70115 Szczecin, Poland

[4] Univ Padua, Dept Paediat, I-35100 Padua, Italy

[5] Childrens Mem Hlth Inst, Dept Ophthalmol, Warsaw, Poland

[6] Pomeranian Acad Med, Dept Neurosurg, PL-70115 Szczecin, Poland

[7] Med Univ, Dept Biol & Genet, Gdansk, Poland

[8] Pomeranian Acad Med, Dept Neurol, PL-70115 Szczecin, Poland

[9] Med Univ Silesia, Dept Pathol, Katowice, Poland

[10] Jagiellonian Univ, Coll Med, Inst Neurol, Dept Neuropathol, Krakow, Poland

[11] Med Univ, Dept Pathol, Lublin, Poland

[12] Sch Med, Dept Pathol, Lodz, Poland

[13] Med Acad Lodz, Dept Neurosurg, Lodz, Poland

[14] Jagiellonian Univ, Polish Amer Childrens Hosp, Coll Med, Dept Genet, Krakow, Poland

[15] Med Univ Silesia, Dept Ophthalmol, Katowice, Poland

[16] Med Acad, Dept Genet, Bydgoszcz, Poland

[17] Med Acad, Dept Ophthalmol, Poznan, Poland

[18] Jagiellonian Univ, Coll Med, Dept Ophthalmol, Krakow, Poland

[19] Dept Human Genet, Poznan, Poland

[20] Med Acad, Dept Ophthalmol, Wroclaw, Poland

[21] Pomeranian Acad Med, Dept Urol, PL-70115 Szczecin, Poland

[22] Pomeranian Acad Med, Dept Radiol, PL-70115 Szczecin, Poland

[23] Inst Immunol & Expt Therapy PAS, Wroclaw, Poland

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 07期

关键词：

D O I：

10.1136/jmg.39.7.e38

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

[No abstract available]

引用

页数：8

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