Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense in codon 1175 of CREBBP

被引：39

作者：

Bartsch, O

Locher, K

Meinecke, P

Kress, W

Seemanová, E

Wagner, A

Ostermann, K

Rödel, G

机构：

[1] Tech Univ Dresden, Inst Klin Genet, Fak Med, D-01307 Dresden, Germany

[2] Tech Univ Dresden, Inst Genet, D-01062 Dresden, Germany

[3] Altonaer Kinderkrankenhaus, Abt Med Genet, D-22708 Hamburg, Germany

[4] Univ Wurzburg, Inst Humangenet, Biozentrum, D-97074 Wurzburg, Germany

[5] Charles Univ Prague, Motol Hosp, Dept Clin Genet, Fac Med 2, Prague 15006 5, Czech Republic

来源：

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

关键词：

D O I：

10.1136/jmg.39.7.496

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：496 / 501

页数：6

共 29 条

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