A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome-Reference-Cited by-同舟云学术

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

Published:2017-11 Issue: Volume:174 Page:14-16
ISSN:0960-0760
Container-title:The Journal of Steroid Biochemistry and Molecular Biology
language:en
Short-container-title:The Journal of Steroid Biochemistry and Molecular Biology

Author:

Batista Rafael Loch,Rodrigues Andresa di Santi,Nishi Mirian Yumie,Gomes Nathalia Lisboa,Faria José Antonio Diniz,Moraes Daniela Rodrigues de,Carvalho Luciani Renata,Costa Elaine Maria Frade,Domenice Sorahia,Mendonca Berenice Bilharinho

Funder

FAPESP (Fundação de Amparo á Pesquisa do Estado de São Paulo)

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Endocrinology,Molecular Biology,Molecular Medicine,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference13 articles.

1. Clinical and molecular aspects of androgen insensitivity;Hiort;Endocr. Dev.,2013

2. Disorders of sex development: effect of molecular diagnostics;Achermann;Nat. Rev. Endocrinol.,2015

3. 46,XY disorders of sex development (46,XY DSD) due to androgen receptor defects: androgen insensitivity syndrome;Arnhold;Adv. Exp. Med. Biol.,2011

4. The androgen receptor gene mutations database: 2012 update;Gottlieb;Hum. Mutat.,2012

5. Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B;Simhadri;J. Med. Genet.,2017

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5. Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine;Clinical Case Reports;2020-11-29