Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.
| Publicado en: | Orphanet Journal of Rare Diseases Vol. 19; no. 1; pp. 1 - 24 |
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| Autores principales: | , , , , , , , , , , , |
| Formato: | Journal Article |
| Publicado: |
BioMed Central
8/23/2024
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=179231937&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 179231937 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 17501172 38NP jtl: Orphanet Journal of Rare Diseases issn: 17501172 maglogo: N pubinfo: dt: 8/23/2024 vid: 19 iid: 1 pid: 24147 pub: BioMed Central artinfo: ui: 179231937 10.1186/s13023-024-03318-3 179231937 ppf: 1 ppct: 23 formats: tig: atl: Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis. aug: au: Zlotina, Anna Barashkova, Svetlana Zhuk, Sergey Skitchenko, Rostislav Usoltsev, Dmitrii Sokolnikova, Polina Artomov, Mykyta Alekseenko, Svetlana Simanova, Tatiana Goloborodko, Maria Berleva, Olga Kostareva, Anna affil: https://ror.org/03qepc107 Almazov National Medical Research Centre, 197341, Saint-Petersburg, Russia sug: pubtype: Academic Journal doctype: Journal Article ougenre: Article ab: language: English refInfo: holdings: @attributes: islocal: N |
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