Cargando…

Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency

Detalles Bibliográficos
Autores principales: Choi, Jin-Ho, Woo, Kyu Ha, Kim, Ja Hye, Cho, Ja Hyang, Kim, Gu-Hwan, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428200/
http://dx.doi.org/10.1186/1687-9856-2015-S1-O53
_version_ 1782370851774005248
author Choi, Jin-Ho
Woo, Kyu Ha
Kim, Ja Hye
Cho, Ja Hyang
Kim, Gu-Hwan
Yoo, Han-Wook
author_facet Choi, Jin-Ho
Woo, Kyu Ha
Kim, Ja Hye
Cho, Ja Hyang
Kim, Gu-Hwan
Yoo, Han-Wook
author_sort Choi, Jin-Ho
collection PubMed
description
format Online
Article
Text
id pubmed-4428200
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-44282002015-05-18 Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency Choi, Jin-Ho Woo, Kyu Ha Kim, Ja Hye Cho, Ja Hyang Kim, Gu-Hwan Yoo, Han-Wook Int J Pediatr Endocrinol Oral Presentation BioMed Central 2015 2015-04-28 /pmc/articles/PMC4428200/ http://dx.doi.org/10.1186/1687-9856-2015-S1-O53 Text en Copyright © 2015 Choi et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Oral Presentation
Choi, Jin-Ho
Woo, Kyu Ha
Kim, Ja Hye
Cho, Ja Hyang
Kim, Gu-Hwan
Yoo, Han-Wook
Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency
title Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency
title_full Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency
title_fullStr Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency
title_full_unstemmed Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency
title_short Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency
title_sort novel heterozygous mutations of the sf1 gene and their functional characterization in patients with 46,xy disorders of sex development (dsd) without adrenal insufficiency
topic Oral Presentation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428200/
http://dx.doi.org/10.1186/1687-9856-2015-S1-O53
work_keys_str_mv AT choijinho novelheterozygousmutationsofthesf1geneandtheirfunctionalcharacterizationinpatientswith46xydisordersofsexdevelopmentdsdwithoutadrenalinsufficiency
AT wookyuha novelheterozygousmutationsofthesf1geneandtheirfunctionalcharacterizationinpatientswith46xydisordersofsexdevelopmentdsdwithoutadrenalinsufficiency
AT kimjahye novelheterozygousmutationsofthesf1geneandtheirfunctionalcharacterizationinpatientswith46xydisordersofsexdevelopmentdsdwithoutadrenalinsufficiency
AT chojahyang novelheterozygousmutationsofthesf1geneandtheirfunctionalcharacterizationinpatientswith46xydisordersofsexdevelopmentdsdwithoutadrenalinsufficiency
AT kimguhwan novelheterozygousmutationsofthesf1geneandtheirfunctionalcharacterizationinpatientswith46xydisordersofsexdevelopmentdsdwithoutadrenalinsufficiency
AT yoohanwook novelheterozygousmutationsofthesf1geneandtheirfunctionalcharacterizationinpatientswith46xydisordersofsexdevelopmentdsdwithoutadrenalinsufficiency