Literature DB >> 19309780

Novel human pathological mutations. Gene symbol: HSD17B3. Disease: 17 beta-hydroxysteroid dehydrogenase-3 deficiency.

O Thomas Mueller1, Adam Coovadia.   

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Year:  2009        PMID: 19309780

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


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  1 in total

Review 1.  Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.

Authors:  Catarina I Gonçalves; Josianne Carriço; Margarida Bastos; Manuel C Lemos
Journal:  Int J Mol Sci       Date:  2022-09-02       Impact factor: 6.208

  1 in total

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