Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
复制标题
骶骨发育不全、三指骨拇指和镜像多指畸形中人类 Sonic Hedgehog 编码和启动子区域的分析。
DOI：
10.1007/s004390050709
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发表时间：
1998
期刊：
影响因子：
5.3
通讯作者：
Muenke,
中科院分区：
文献类型：
--
作者：
Vargas,FR;Roessler,E;Gaudenz,K;Belloni,E;Whitehead,AS;Kirke,PN;Mills,JL;Hooper,G;Stevenson,RE;Cordeiro,I;Correia,P;Felix,T;Gereige,R;Cunningham,ML;Canún,S;Antonarakis,SE;Strachan,T;Tsui,LC;Scherer,SW;Muenke,
The humanSonic Hedgehoggene (SHH) is one of the vertebrate homologs related to theDrosophilasegment polarity genehedgehog. The entire coding and promoter region of theSHHgene, including 2 kb 5’ of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied theSHHgene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories.
