Spondyloepiphyseal Dysplasia Tarda: Linkage with Genetic Markers from the Distal Short Arm of the X Chromosome.

S. Szpiro-Tapia,A. Sefiani,M. Guilloud-Bataille,S. Heuertz,B. Le Marec,J. Frézal,P. Maroteaux,M. C. Hors-Cayla

Human genetics（1988）

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摘要

A linkage study of six families with spondyloepiphyseal dysplasia tarda (SEDL) has been performed. A linkage to site DXS41 (\(\hat \theta \)=0.08; ž=3.07) and DXS92 (\(\hat \theta \)=0.05; ž=2.95) has been established. We propose, that the SEDL locus lies on the distal part of the short arm of the X chromosome.

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关键词

Internal Medicine,Metabolic Disease,Genetic Marker,Distal Part,Linkage Study

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