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- W2380500687 abstract "AIM:The androgen receptors(AR) in cultured genital skin fibroblasts (GSF) from two patients with testicular feminization syndrome were determined.RESULTS:Amount of AR in the two GSF lines had no obvious change,but the AR binding affinity of one patient was significantly decreased.Using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP),a useful screening method for rapid detection of DNA sequence alterations,and direct DNA double strands cycle sequencing,point mutations within exon E of the AR genes in the two patients were indentified,resulting in alterations of codons 743 and 752 respectively,the latter (codens 752) disappeared recognition sequence for the restriction endonuclease Sau 3A Ⅰ CONCLUSION:The AR structural changes resulting from these two substitutions were responsible for the abnormality of sex differentiation and development of this two patients." @default.
- W2380500687 created "2016-06-24" @default.
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- W2380500687 date "1998-01-01" @default.
- W2380500687 modified "2023-09-23" @default.
- W2380500687 title "Mutations of the androgen receptor genes of two patients with testicular feminization syndrome" @default.
- W2380500687 hasPublicationYear "1998" @default.
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