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| Novel Mutation of SLC26A3 Gene Observed in Congenital Chloride Diarrhea |
| Ji Hye Cheon, Na Li Yu, Na Mi Lee |
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Neonatal Med. 2023;30(3):75-78. Published online August 31, 2023 DOI: https://doi.org/10.5385/nm.2023.30.3.75 |
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Novel Mutation of SLC26A3 Gene Observed in Congenital Chloride Diarrhea Neonatal Medicine. 2023;30(3):75-78  Congenital Chloride Diarrhea – Novel Mutation in SLC26A3 Gene The Indian Journal of Pediatrics. 2015;83(8):859-861 Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation Pediatrics International. 2020;62(11):1294-1296 Update on SLC26A3 mutations in congenital chloride diarrhea Human Mutation. 2011;32(7):715-722 SLC26A3 mutations in congenital chloride diarrhea Human Mutation. 2002;20(6):425-438 A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea Acta Paediatrica. 2017;106(6):1004-1005 A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate Molecular Genetics & Genomic Medicine. 2020;8(11): Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea Human Mutation. 2001;18(3):233-242 Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report Frontiers in Pediatrics. 2021;9: Pediatrics International. 2015;57(1): |
