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A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society for Laboratory Medicine
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587836/ https://www.ncbi.nlm.nih.gov/pubmed/28841001 http://dx.doi.org/10.3343/alm.2017.37.6.559 |
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author | Oh, Jongwon Song, Ju-Sun Park, Jong Eun Jang, Shin Yi Ki, Chang-Seok Kim, Duk-Kyung |
author_facet | Oh, Jongwon Song, Ju-Sun Park, Jong Eun Jang, Shin Yi Ki, Chang-Seok Kim, Duk-Kyung |
author_sort | Oh, Jongwon |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-5587836 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | The Korean Society for Laboratory Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-55878362017-11-01 A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene Oh, Jongwon Song, Ju-Sun Park, Jong Eun Jang, Shin Yi Ki, Chang-Seok Kim, Duk-Kyung Ann Lab Med Letter to the Editor The Korean Society for Laboratory Medicine 2017-11 2017-08-16 /pmc/articles/PMC5587836/ /pubmed/28841001 http://dx.doi.org/10.3343/alm.2017.37.6.559 Text en © The Korean Society for Laboratory Medicine http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Letter to the Editor Oh, Jongwon Song, Ju-Sun Park, Jong Eun Jang, Shin Yi Ki, Chang-Seok Kim, Duk-Kyung A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene |
title | A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene |
title_full | A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene |
title_fullStr | A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene |
title_full_unstemmed | A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene |
title_short | A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene |
title_sort | case of antley-bixler syndrome with a novel likely pathogenic variant (c.529g>c) in the por gene |
topic | Letter to the Editor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587836/ https://www.ncbi.nlm.nih.gov/pubmed/28841001 http://dx.doi.org/10.3343/alm.2017.37.6.559 |
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