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Article

Dissecting phenotypic variation among AIS patients.

Biochemical and biophysical research communications - 23 Sept 2005

Wang Minghua, Wang Jiucun, Zhang Zhen, Zhao Zhimin, Zhang Rongmei, Hu Xiaohua, Tan Tao, Luo Shijing, Luo Zewei

Abstract excerpt

We have created genital skin fibroblast cell lines directly from three patients in a Chinese family affected by androgen insensitivity syndrome (AIS). All patients in the family share an identical AR Arg840Cys mutant but show different disease phenotypes. By using the cell lines, we find that the mutation has not influenced a normal androgen-binding capacity at 37 degrees C but has reduced the affinity for...

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PMID: 16083860
DOI: 10.1016/j.bbrc.2005.07.077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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