MOLECULAR ANALYSIS OF THE WILLIAMS SYNDROME DELETION

描述（改编自申请人的描述）：这项工作的目标 是找出导致威廉姆斯综合征的剂量敏感基因 表型，并了解其功能和调节。 此外该 导致高频率零星缺失形成的机制将 接受检查。 将采用各种遗传技术来鉴定， 表征和关联缺失区域中的基因。

DESCRIPTION (Adapted from applicant's description): The goal of this work is to identify dosage sensitive genes responsible for the Williams syndrome phenotype and to understand their function and regulation. In addition, the mechanisms leading to the high frequency of sporadic deletion formation will be examined. A variety of genetic techniques will be employed to identify, characterize, and correlate genes in the deleted region.