Identification of a Novel Missense Mutation That Is as Damaging to DAX-1 Repressor Function as a Nonsense Mutation-Reference-Cited by-同舟云学术

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Identification of a Novel Missense Mutation That Is as Damaging to DAX-1 Repressor Function as a Nonsense Mutation

Published:2003-03 Issue:3 Volume:88 Page:1341-1349
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Brown Pamela,Scobie Graeme A.,Townsend Julie,Bayne Rosemary A. L.,Seckl Jonathan R.,Saunders Philippa T. K.,Anderson Richard A.

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants;Frontiers in Endocrinology;2022-03-30

2. Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation;BMC Endocrine Disorders;2020-02-06

3. A patient with DAX1 mutation presenting with elevated testosterone in early infancy;World Journal of Pediatrics;2019-03-20

4. Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases;Pediatric and Developmental Pathology;2016-11

5. Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1;Journal of Pediatric Endocrinology and Metabolism;2015-01-01

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