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Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine

To improve diagnostic informativity of AR gene mutation analysis in patients with AIS, we recommend to include novel identified missense mutation c.2507T>G in the list of AIS‐causing mutations.

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Vydáno v:Clin Case Rep
Hlavní autoři: Sirokha, Dmytro, Gorodna, Olexandra, Lozhko, Dmytro, Livshyts, Ganna, Zelinska, Nataliya, Livshits, Liudmyla
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7813113/
https://ncbi.nlm.nih.gov/pubmed/33505695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3566
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