Article
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
American journal of human genetics - 1 Apr 1998
Zhang Y H, Guo W, Wagner R L, Huang B L, McCabe L, Vilain E, Burris T P, Anyane-Yeboa K, Burghes A H, Chitayat D, Chudley A E, Genel M, Gertner J M, Klingensmith G J, Levine S N, Nakamoto J, New M I, Pagon R A, Pappas J G, Quigley C A, Rosenthal I M, Baxter J D, Fletterick R J, McCabe E R
Abstract excerpt
The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 mutations result in X-linked adrenal hypoplasia congenita (AHC). Our objective was to identify DAX1 mutations in a series of families, to determine the types of mutations resulting in AHC and to locate single-amino-acid changes in a DAX1 structural model. The 14 new mutations...
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