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Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer US
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10140719/ https://www.ncbi.nlm.nih.gov/pubmed/37115363 http://dx.doi.org/10.1007/s10875-023-01489-5 |
| _version_ | 1785033223283146752 |
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| author | Tan, Ryan Rozmus, Jacob Turvey, Stuart E. Biggs, Catherine M. |
| author_facet | Tan, Ryan Rozmus, Jacob Turvey, Stuart E. Biggs, Catherine M. |
| author_sort | Tan, Ryan |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-10140719 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Springer US |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-101407192023-05-01 Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia Tan, Ryan Rozmus, Jacob Turvey, Stuart E. Biggs, Catherine M. J Clin Immunol Letter to Editor Springer US 2023-04-28 /pmc/articles/PMC10140719/ /pubmed/37115363 http://dx.doi.org/10.1007/s10875-023-01489-5 Text en © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2023 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic. |
| spellingShingle | Letter to Editor Tan, Ryan Rozmus, Jacob Turvey, Stuart E. Biggs, Catherine M. Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia |
| title | Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia |
| title_full | Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia |
| title_fullStr | Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia |
| title_full_unstemmed | Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia |
| title_short | Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia |
| title_sort | homozygous rmrp promoter duplications cause severely reduced transcript abundance and scid associated with cartilage hair hypoplasia |
| topic | Letter to Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10140719/ https://www.ncbi.nlm.nih.gov/pubmed/37115363 http://dx.doi.org/10.1007/s10875-023-01489-5 |
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