Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.

A four-generation kindred (14 affected and 10 unaffected members) from Missouri, U.S.A. in which spondyloepimetaphyseal dysplasia (SEMD) had been inherited as an autosomal dominant disorder was investigated for linkage to 13 candidate loci: COL2AI, COL9AI, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2,...

詳細記述

書誌詳細
主要な著者: Gertner, J, Whyte, M, Dixon, P, Pang, J, Trump, D, Pearce, S, Wooding, C, Thakker, R
フォーマット: Journal article
言語:English
出版事項: 1997