The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female-Reference-Cited by-同舟云学术

The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female

Published:2017-06-13 Issue:12 Volume:33 Page:918-922
ISSN:0951-3590
Container-title:Gynecological Endocrinology
language:en
Short-container-title:Gynecological Endocrinology

Author:

Lanzolla Giulia¹,Vancieri Giuseppe²,Lanciotti Silvia³,Sangiuolo Federica³,Menegatti Elisa⁴,Federici Luca⁵⁶,Moretti Costanzo²,Brancati Francesco⁷⁸

Affiliation:

1. Department Experimental Medicine, Section of Physiopathology, Food Science and Endocrinology, Sapienza University of Rome, Rome, Italy;

2. Division of Endocrinology, Department of System Medicine, Section of Reproductive Endocrinology, Tor Vergata University of Rome, Fatebenefratelli Hospital San Giovanni Calibita, Rome, Italy;

3. Genetics Section, Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy;

4. Department of Clinical and Biological Sciences, University of Turin, Turin, Italy;

5. Department of Medical, Oral and Biotechnological Sciences, University of Chieti, Chieti, Italy;

6. Centre for Ageing and Translational Sciences (CeSI-MeT), Chieti, Italy;

7. Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy;

8. Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI) IRCCS, Rome, Italy

Publisher

Informa UK Limited

Subject

Obstetrics and Gynaecology,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/09513590.2017.1337097

Reference21 articles.

1. 17-Hydroxylase: an evaluation of the present view of its catalytic role in steroidogenesis

2. A new compound heterozygous mutation in theCYP17A1gene in a female with 17α-hydroxylase/17,20-lyase deficiency

3. Two Intronic Mutations Cause 17-Hydroxylase Deficiency by Disrupting Splice Acceptor Sites: Direct Demonstration of Aberrant Splicing and Absent Enzyme Activity by Expression of the EntireCYP17Gene in HEK-293 Cells

4. 17-hydroxylation deficiency in man.

5. The genetic and functional basis of isolated 17,20–lyase deficiency

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