ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review.
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| Title: | ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review. |
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| Authors: | Ognean ML; Faculty of Medicine, Lucian Blaga University, 550169 Sibiu, Romania.; Neonatology Department, Clinical County Emergency Hospital, 550245 Sibiu, Romania., Anciuc-Crauciuc M; Department of Neonatology, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 Targu Mures, Romania., Galiș R; Department of Neonatology, Emergency County Hospital Bihor, Oradea University, 410087 Oradea, Romania.; Department of Neonatology, Poznan University of Medical Sciences, 61-701 Poznan, Poland., Stepan AE; Department of Pathology, University of Medicine and Pharmacy of Craiova, 2 Petru Rares Street, 200349 Craiova, Romania., Stepan MD; Department of Infant Care-Pediatrics-Neonatology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Bănescu C; Genetic Department, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, Gheorghe Marinescu Street No. 38, 540136 Targu Mures, Romania., Grosu F; Faculty of Medicine, Lucian Blaga University, 550169 Sibiu, Romania.; Imaging Department, Lucian Blaga University, 550169 Sibiu, Romania., Kramer BW; Department of Neonatology, Poznan University of Medical Sciences, 61-701 Poznan, Poland., Cucerea M; Department of Neonatology, George Emil Palade University of Medicine, Pharmacy, Science, and Technology, 540142 Targu Mures, Romania. |
| Source: | Biomedicines [Biomedicines] 2024 Oct 18; Vol. 12 (10). Date of Electronic Publication: 2024 Oct 18. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2227-9059 |
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| DOI: | 10.3390/biomedicines12102390 |
