The novel founder homozygous V225M mutation in the HSD17B3...

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Endocrine (Springer) 2020 / 5

The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD

Levy-Khademi, Floris, Zeligson, Sharon, Lavi, Eran, Klopstock, Tehila, Chertin, Boris, Avnon- Ziv, Carmit, Abulibdeh, Abdulsalam, Renbaum, Paul, Rosen, Tzvia, Perlberg-Bengio, Shira, Zahdeh, Fouad, Be
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Journal:
Endocrine
DOI:
10.1007/s12020-020-02327-z
Date:
May, 2020
File:
PDF, 574 KB
2020
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