A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

被引：16

作者：

Grunebaum, E

Arpaia, E

MacKenzie, JJ

Fitzpatrick, J

Ray, PN

Roifman, CM

机构：

[1] Hosp Sick Children, Res Inst, Infect Immun Injury & Repair Program, Dept Pediat,Div Immunol Allergy, Toronto, ON M5G 1X8, Canada

[2] Univ Toronto, Toronto, ON, Canada

[3] Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 06期

关键词：

D O I：

10.1136/jmg.38.6.409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：409 / 411

页数：3

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