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Case Reports
. 2016 Jan 5;129(1):98-100.
doi: 10.4103/0366-6999.172603.

Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis (V体育官网)

He-Yu Huang, Hua Zhou, Hong Wang, Ya-Xian Chen, Feng Fang  1
Affiliations
Case Reports

"V体育官网" Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis

He-Yu Huang et al. Chin Med J (Engl). .
No abstract available

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Figures

Figure 1
Figure 1
Sequence analysis of exons of the HSD3B7 gene of the patient. Two identified mutations were c.503G>A (p.Trp168Ter) in exon 5 and c.683G>A (p.Arg228Gln) mutation in exon 6. The patient inherited the aforementioned two mutations from her parents as the compound heterozygote. The nucleotide exchange and insertion are marked by arrows.
See this image and copyright information in PMC

"V体育2025版" References

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