NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders

被引：73

作者：

Castori, M

Valente, EM

Donati, MA

Salvi, S

Fazzi, E

Procopio, E

Galluccio, T

Emma, F

Dallapiccola, B

Bertini, E

机构：

[1] Bambino Gesu Pediat Hosp, Mol Med Unit, Dept Lab Med, IRCCS, I-00165 Rome, Italy

[2] IRCCS CSS, Mendel Inst, Rome, Italy

[3] Univ Florence, Meyer Childrens Hosp, Dept Paediat, Florence, Italy

[4] Univ Pavia, IRCCS C Mondino Fdn, Dept Child Neurol & Psychiat, I-27100 Pavia, Italy

[5] Bambino Gesu Pediat Hosp, Dept Lab Med, Div Nephrol & Dialysis, Rome, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 02期

关键词：

D O I：

10.1136/jmg.2004.027375

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：4

共 24 条

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