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Matches in SemOpenAlex for { <https://semopenalex.org/work/W1994328367> ?p ?o ?g. }

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• W1994328367 abstract "We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and one in exon E. Microsatellite marker analysis showed that the patient is homozygous for all five Xq loci examined. The results suggest that the long-arms of the two X chromosomes are identical, i.e., uniparental isodisomy at least for Xq, and carry the same mutations in the androgen receptor gene. This explains how complete androgen insensitivity syndrome occurred in this 47,XXY individual." @default.
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• W1994328367 date "1999-09-10" @default.
• W1994328367 modified "2023-10-14" @default.
• W1994328367 title "Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome" @default.
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• W1994328367 doi "https://doi.org/10.1002/(sici)1096-8628(19990910)86:2<107::aid-ajmg3>3.0.co;2-4" @default.
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