Cargando…
Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Chonnam National University Medical School
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8813656/ https://www.ncbi.nlm.nih.gov/pubmed/35169569 http://dx.doi.org/10.4068/cmj.2022.58.1.66 |
| _version_ | 1784644907564007424 |
|---|---|
| author | Won, Sang-Hyeon Bae, Kyung-Nam Son, Jin-Hwa Shin, Kihyuk Kim, Hoon-Soo Ko, Hyun-Chang Kim, Byung-Soo Kim, Moon-Bum |
| author_facet | Won, Sang-Hyeon Bae, Kyung-Nam Son, Jin-Hwa Shin, Kihyuk Kim, Hoon-Soo Ko, Hyun-Chang Kim, Byung-Soo Kim, Moon-Bum |
| author_sort | Won, Sang-Hyeon |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8813656 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Chonnam National University Medical School |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-88136562022-02-14 Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing Won, Sang-Hyeon Bae, Kyung-Nam Son, Jin-Hwa Shin, Kihyuk Kim, Hoon-Soo Ko, Hyun-Chang Kim, Byung-Soo Kim, Moon-Bum Chonnam Med J Letters to the Editor Chonnam National University Medical School 2022-01 2022-01-25 /pmc/articles/PMC8813656/ /pubmed/35169569 http://dx.doi.org/10.4068/cmj.2022.58.1.66 Text en © Chonnam Medical Journal, 2022 https://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/ (https://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 | Letters to the Editor Won, Sang-Hyeon Bae, Kyung-Nam Son, Jin-Hwa Shin, Kihyuk Kim, Hoon-Soo Ko, Hyun-Chang Kim, Byung-Soo Kim, Moon-Bum Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing |
| title | Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing |
| title_full | Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing |
| title_fullStr | Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing |
| title_full_unstemmed | Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing |
| title_short | Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing |
| title_sort | dominant dystrophic epidermolysis bullosa with a mutation in col7a1 confirmed by diagnostic exome sequencing |
| topic | Letters to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8813656/ https://www.ncbi.nlm.nih.gov/pubmed/35169569 http://dx.doi.org/10.4068/cmj.2022.58.1.66 |
| work_keys_str_mv | AT wonsanghyeon dominantdystrophicepidermolysisbullosawithamutationincol7a1confirmedbydiagnosticexomesequencing AT baekyungnam dominantdystrophicepidermolysisbullosawithamutationincol7a1confirmedbydiagnosticexomesequencing AT sonjinhwa dominantdystrophicepidermolysisbullosawithamutationincol7a1confirmedbydiagnosticexomesequencing AT shinkihyuk dominantdystrophicepidermolysisbullosawithamutationincol7a1confirmedbydiagnosticexomesequencing AT kimhoonsoo dominantdystrophicepidermolysisbullosawithamutationincol7a1confirmedbydiagnosticexomesequencing AT kohyunchang dominantdystrophicepidermolysisbullosawithamutationincol7a1confirmedbydiagnosticexomesequencing AT kimbyungsoo dominantdystrophicepidermolysisbullosawithamutationincol7a1confirmedbydiagnosticexomesequencing AT kimmoonbum dominantdystrophicepidermolysisbullosawithamutationincol7a1confirmedbydiagnosticexomesequencing |