A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

被引：12

作者：

del Giudice, EM

Coppola, G

Bellini, G

Ledaal, P

Hertz, JM

Pascotto, A

机构：

[1] Univ Naples 2, Dept Paediat, Naples, Italy

[2] Univ Naples 2, Chair Child & Adolescent Neuropsychiat, Naples, Italy

[3] Sonderborg Hosp, Dept Paediat, Sonderborg, Denmark

[4] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark

[5] CIRN, Naples, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 05期

关键词：

D O I：

10.1136/jmg.40.5.e71

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：3

共 17 条

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