A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female-Reference-Cited by-同舟云学术

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A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female

Published:2021-02-11 Issue:5 Volume:53 Page:
ISSN:0303-4569
Container-title:Andrologia
language:en
Short-container-title:Andrologia

Author:

Ambulkar Prafulla S.¹^ORCID,Waghmare Jwalant E.¹,Verma Shivkumar Poonam²,Narang Pratibha¹³,Pal Asoke K.¹

Affiliation:

1. Centre for Genetics & Genomics Department of Anatomy Mahatma Gandhi Institute of Medical Sciences Sevagram, Wardha India

2. Department of Obstetrics & Gynaecology Mahatma Gandhi Institute of Medical Sciences Sevagram, Wardha India

3. Department of Microbiology Mahatma Gandhi Institute of Medical Sciences Sevagram, Wardha India

Publisher

Wiley

Subject

Urology,Endocrinology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/and.14011

Reference21 articles.

1. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

2. Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis

3. Evidence That the SRY Protein Is Encoded by a Single Exon on the Human Y Chromosome

4. Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold

Cited by 2 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. Role of nucleobase-specific interactions in binding and bending of DNA by human male sex-determination factor SRY;Journal of Biological Chemistry;2024-08

2. A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female;Andrologia;2021-02-11

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