GENETIC-MAPPING OF XP22.12-P22.31, WITH A REFINED LOCALIZATION FOR SPONDYLOEPIPHYSEAL DYSPLASIA (SEDL)

被引：15

作者：

HEUERTZ, S

SMAHI, A

WILKIE, AOM

LEMERRER, M

MAROTEAUX, P

HORSCAYLA, MC

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U393,F-75743 PARIS 15,FRANCE

[2] HOP NECKER ENFANTS MALAD,CNRS,URA 584,F-75743 PARIS 15,FRANCE

[3] UNIV WALES HOSP,INST MED GENET,CARDIFF CF4 4XW,S GLAM,WALES

来源：

HUMAN GENETICS | 1995年 / 96卷 / 04期

关键词：

D O I：

10.1007/BF00191797

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.

引用

页码：407 / 410

页数：4

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